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DO May 2024 release
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allenbaron committed May 29, 2024
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4 changes: 2 additions & 2 deletions DOreports/DO-equivalentClass.tsv
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Expand Up @@ -378,7 +378,7 @@ DOID:288 endometriosis of uterus endometriosis and ('disease has location' some
DOID:289 endometriosis disease and ('disease has location' some endometrium)
DOID:2914 immune system disease disease and ('disease has location' some 'immune system')
DOID:292 lacrimal system cancer cancer and ('disease has location' some 'lacrimal apparatus')
DOID:2938 Epstein-Barr virus infectious disease disease and ('has material basis in' some 'Human gammaherpesvirus 4')
DOID:2938 Epstein-Barr virus infectious disease disease and ('has material basis in' some 'human gammaherpesvirus 4')
DOID:294 lacrimal gland cancer cancer and ('disease has location' some 'lacrimal gland')
DOID:2952 inner ear disease disease and ('disease has location' some 'internal ear')
DOID:299 adenocarcinoma cancer and ('derives from' some ('epithelial cell' and (has_origin some gland)))
Expand Down Expand Up @@ -623,7 +623,7 @@ DOID:732 urethral disease disease and ('disease has location' some urethra)
DOID:734 urethra cancer cancer and ('disease has location' some urethra)
DOID:7388 pulmonary vein leiomyosarcoma leiomyosarcoma and ('disease has location' some 'pulmonary vein')
DOID:7389 pulmonary artery leiomyosarcoma leiomyosarcoma and ('disease has location' some 'pulmonary artery')
DOID:74 hematopoietic system disease disease and (('has material basis in' some 'hematopoietic cell') and ('disease has location' some 'hematopoietic system'))
DOID:74 hematopoietic system disease disease and ('disease has location' some 'hematopoietic system')|disease and ('has material basis in' some 'hematopoietic cell')
DOID:7426 cutaneous anthrax 'anthrax disease' and ('disease has location' some 'zone of skin')
DOID:7437 uterus perivascular epithelioid cell tumor 'perivascular epithelioid cell tumor' and ('disease has location' some 'body of uterus')
DOID:746 adenomatoid tumor 'benign mesothelioma' and (has_origin some gland)
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38 changes: 29 additions & 9 deletions DOreports/DO-subClassOf-anonymous.tsv
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8 changes: 8 additions & 0 deletions DOreports/GARDinDO.tsv
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Expand Up @@ -418,6 +418,11 @@ id label xrefs
"DOID:0060911" "karyomegalic interstitial nephritis"@en "GARD:11003"
"DOID:0060941" "interstitial lung disease 1"@en "GARD:8609"
"DOID:0060945" "amelogenesis imperfecta type 1K"@en "GARD:5791"
"DOID:0060948" "Ullrich congenital muscular dystrophy 2"@en "GARD:4769"
"DOID:0060949" "3-hydroxyisobutryl-CoA hydrolase deficiency"@en "GARD:13202"
"DOID:0060953" "ZTTK syndrome"@en "GARD:13489"
"DOID:0060958" "orofaciodigital syndrome XIV" "GARD:13655"
"DOID:0060959" "orofaciodigital syndrome II" "GARD:3701"
"DOID:0070026" "Revesz syndrome"@en "GARD:4695"
"DOID:0070029" "ITM2B-related cerebral amyloid angiopathy 1"@en "GARD:8344"
"DOID:0070055" "Xia-Gibbs Syndrome"@en "GARD:13409"
Expand Down Expand Up @@ -498,6 +503,9 @@ id label xrefs
"DOID:0070521" "peeling skin syndrome 2"@en "GARD:12863"
"DOID:0070537" "spastic tetraplegia, thin corpus callosum, and progressive microcephaly"@en "GARD:13425"
"DOID:0070538" "syndromic X-linked intellectual developmental disorder bain type"@en "GARD:13442"
"DOID:0070540" "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"@en "GARD:13019"
"DOID:0070541" "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"@en "GARD:8387"
"DOID:0070544" "congenital glutamine deficiency"@en "GARD:9848"
"DOID:0080016" "spina bifida"@en "GARD:7673"
"DOID:0080021" "Schmid metaphyseal chondrodysplasia"@en "GARD:7029"
"DOID:0080028" "spondyloepimetaphyseal dysplasia, Strudwick type"@en "GARD:134"
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35 changes: 33 additions & 2 deletions DOreports/HumanDO.tsv
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Expand Up @@ -8,6 +8,8 @@ id label subClassOf
"DOID:0060241" "3-M syndrome" "syndrome"
"DOID:0080579" "3-Methylcrotonyl-CoA carboxylase 1 deficiency" "3-methylcrotonyl-CoA carboxylase deficiency"
"DOID:0080580" "3-Methylcrotonyl-CoA carboxylase 2 deficiency" "3-methylcrotonyl-CoA carboxylase deficiency"
"DOID:0070541" "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" "amino acid metabolic disorder"
"DOID:0060949" "3-hydroxyisobutryl-CoA hydrolase deficiency" "amino acid metabolic disorder"
"DOID:0050710" "3-methylcrotonyl-CoA carboxylase deficiency" "amino acid metabolic disorder"
"DOID:0060336" "3-methylglutaconic aciduria" "organic acidemia"
"DOID:0110002" "3-methylglutaconic aciduria type 1" "3-methylglutaconic aciduria"
Expand Down Expand Up @@ -457,6 +459,7 @@ id label subClassOf
"DOID:0080507" "Cornelia de Lange syndrome 3" "Cornelia de Lange syndrome"
"DOID:0080508" "Cornelia de Lange syndrome 4" "Cornelia de Lange syndrome"
"DOID:0080509" "Cornelia de Lange syndrome 5" "Cornelia de Lange syndrome"
"DOID:0060970" "Cornelia de Lange syndrome 6" "Cornelia de Lange syndrome"
"DOID:0080599" "Coronavirus infectious disease" "viral infectious disease"
"DOID:0050469" "Costello syndrome" "RASopathy"
"DOID:6457" "Cowden syndrome" "PTEN hamartoma tumor syndrome"
Expand Down Expand Up @@ -494,6 +497,8 @@ id label subClassOf
"DOID:0112158" "De Sanctis-Cacchione syndrome" "xeroderma pigmentosum"
"DOID:0081126" "DeSanto-Shinawi syndrome" "syndrome"
"DOID:0050699" "Dent disease" "renal tubular transport disease"
"DOID:0081453" "Dent disease 1" "Dent disease"
"DOID:0081454" "Dent disease 2" "Dent disease"
"DOID:3764" "Denys-Drash syndrome" "syndrome"
"DOID:0060462" "Desbuquois dysplasia" "osteochondrodysplasia"
"DOID:11198" "DiGeorge syndrome" "syndrome"
Expand Down Expand Up @@ -722,6 +727,7 @@ id label subClassOf
"DOID:8654" "Hodgkin's lymphoma, mixed cellularity" "Hodgkin's lymphoma"
"DOID:8838" "Hodgkin's lymphoma, nodular sclerosis" "Hodgkin's lymphoma"
"DOID:8642" "Hodgkin's paragranuloma" "Hodgkin's lymphoma"
"DOID:0060954" "Holoprosencephaly 13, X-linked" "holoprosencephaly"
"DOID:0060468" "Holt-Oram syndrome" "syndrome"
"DOID:0060566" "Holzgreve-Wagner-Rehder Syndrome" "syndrome"
"DOID:11486" "Horner's syndrome" "autonomic neuropathy"
Expand Down Expand Up @@ -903,6 +909,7 @@ id label subClassOf
"DOID:0070237" "Loeys-Dietz syndrome 3" "Loeys-Dietz syndrome"
"DOID:0070233" "Loeys-Dietz syndrome 4" "Loeys-Dietz syndrome"
"DOID:0070236" "Loeys-Dietz syndrome 5" "Loeys-Dietz syndrome"
"DOID:0060964" "Loeys-Dietz syndrome 6" "Loeys-Dietz syndrome"
"DOID:13087" "Lown-Ganong-Levine syndrome" "syndrome"
"DOID:4558" "Ludwig's angina" "cellulitis"
"DOID:0070416" "Luo-Schoch-Yamamoto syndrome" "autosomal dominant intellectual developmental disorder"
Expand Down Expand Up @@ -1350,7 +1357,7 @@ id label subClassOf
"DOID:0060946" "Ullrich congenital muscular dystrophy 1A" "Ullrich congenital muscular dystrophy"
"DOID:0060942" "Ullrich congenital muscular dystrophy 1B" "Ullrich congenital muscular dystrophy"
"DOID:0060943" "Ullrich congenital muscular dystrophy 1C" "Ullrich congenital muscular dystrophy"
"DOID:0060944" "Ullrich congenital muscular dystrophy 2" "Ullrich congenital muscular dystrophy"
"DOID:0060948" "Ullrich congenital muscular dystrophy 2" "Ullrich congenital muscular dystrophy"
"DOID:3535" "Unverricht-Lundborg syndrome" "progressive myoclonus epilepsy"
"DOID:0112148" "Uruguay faciocardiomusculoskeletal syndrome" "syndrome"
"DOID:0050439" "Usher syndrome" "syndrome"
Expand Down Expand Up @@ -1547,6 +1554,7 @@ id label subClassOf
"DOID:0080891" "YAP1-MAMLD1 fusion-positive supratentorial ependymoma" "supratentorial ependymoma"
"DOID:0070468" "Yoon-Bellen neurodevelopmental syndrome" "syndrome"
"DOID:0060589" "Yunis-Varon syndrome" "syndrome"
"DOID:0060953" "ZTTK syndrome" "syndrome"
"DOID:0070473" "Zaki syndrome" "syndrome"
"DOID:905" "Zellweger syndrome" "peroxisomal biogenesis disorder"
"DOID:0060478" "Zika fever" "viral infectious disease"
Expand Down Expand Up @@ -3864,6 +3872,7 @@ id label subClassOf
"DOID:0060411" "chromosome 1q21.1 deletion syndrome" "chromosomal deletion syndrome"
"DOID:0060435" "chromosome 1q21.1 duplication syndrome" "chromosomal duplication syndrome"
"DOID:0060412" "chromosome 1q41-q42 deletion syndrome" "chromosomal deletion syndrome"
"DOID:0060412" "chromosome 1q41-q42 deletion syndrome" "holoprosencephaly"
"DOID:0060413" "chromosome 22q11.2 deletion syndrome, distal" "chromosomal deletion syndrome"
"DOID:0060436" "chromosome 22q11.2 microduplication syndrome" "chromosomal duplication syndrome"
"DOID:0060437" "chromosome 22q13 duplication syndrome" "chromosomal duplication syndrome"
Expand Down Expand Up @@ -4289,6 +4298,7 @@ id label subClassOf
"DOID:0111136" "congenital generalized lipodystrophy type 2" "congenital generalized lipodystrophy"
"DOID:0111137" "congenital generalized lipodystrophy type 3" "congenital generalized lipodystrophy"
"DOID:0111138" "congenital generalized lipodystrophy type 4" "congenital generalized lipodystrophy"
"DOID:0070544" "congenital glutamine deficiency" "amino acid metabolic disorder"
"DOID:8303" "congenital granular cell tumor" "mesenchymal cell neoplasm"
"DOID:990" "congenital heart block" "atrioventricular block"
"DOID:0112247" "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" "syndrome"
Expand Down Expand Up @@ -4675,6 +4685,8 @@ id label subClassOf
"DOID:0070378" "developmental and epileptic encephalopathy 109" "developmental and epileptic encephalopathy"
"DOID:0080421" "developmental and epileptic encephalopathy 11" "developmental and epileptic encephalopathy"
"DOID:0070395" "developmental and epileptic encephalopathy 110" "developmental and epileptic encephalopathy"
"DOID:0070545" "developmental and epileptic encephalopathy 116" "amino acid metabolic disorder"
"DOID:0070545" "developmental and epileptic encephalopathy 116" "developmental and epileptic encephalopathy"
"DOID:0080459" "developmental and epileptic encephalopathy 12" "developmental and epileptic encephalopathy"
"DOID:0080445" "developmental and epileptic encephalopathy 13" "developmental and epileptic encephalopathy"
"DOID:0080439" "developmental and epileptic encephalopathy 14" "developmental and epileptic encephalopathy"
Expand Down Expand Up @@ -5227,8 +5239,10 @@ id label subClassOf
"DOID:0050994" "episodic ataxia type 6" "episodic ataxia"
"DOID:0050995" "episodic ataxia type 7" "episodic ataxia"
"DOID:0050996" "episodic ataxia type 8" "episodic ataxia"
"DOID:0060965" "episodic ataxia type 9" "episodic ataxia"
"DOID:0090053" "episodic kinesigenic dyskinesia 1" "dystonia"
"DOID:0090054" "episodic kinesigenic dyskinesia 2" "dystonia"
"DOID:0060944" "episodic kinesigenic dyskinesia 3" "dystonia"
"DOID:0060440" "epithelial and subepithelial dystrophy" "corneal dystrophy"
"DOID:0060447" "epithelial basement membrane dystrophy" "epithelial and subepithelial dystrophy"
"DOID:7926" "epithelial malignant thymoma" "thymoma type B"
Expand Down Expand Up @@ -5729,6 +5743,7 @@ id label subClassOf
"DOID:14695" "galactokinase deficiency" "galactosemia"
"DOID:0111458" "galactose epimerase deficiency" "galactosemia"
"DOID:9870" "galactosemia" "carbohydrate metabolic disorder"
"DOID:0060969" "galactosemia 4" "galactosemia"
"DOID:0080540" "galactosialidosis" "lysosomal storage disease"
"DOID:0040078" "gallamine allergy" "drug allergy"
"DOID:3500" "gallbladder adenocarcinoma" "gallbladder carcinoma"
Expand Down Expand Up @@ -6437,6 +6452,7 @@ id label subClassOf
"DOID:13333" "hypertrophy of tongue papillae" "tongue disease"
"DOID:9837" "hypertropia" "strabismus"
"DOID:1920" "hyperuricemia" "acquired metabolic disease"
"DOID:0060950" "hypervalinemia and hyperleucine-isoleucinemia" "amino acid metabolic disorder"
"DOID:9972" "hypervitaminosis A" "overnutrition"
"DOID:9971" "hypervitaminosis D" "overnutrition"
"DOID:13868" "hypoactive sexual desire disorder" "psychosexual disorder"
Expand Down Expand Up @@ -6540,6 +6556,7 @@ id label subClassOf
"DOID:0110709" "hypotrichosis 12" "hypotrichosis"
"DOID:0110710" "hypotrichosis 13" "hypotrichosis"
"DOID:0080582" "hypotrichosis 14" "hypotrichosis"
"DOID:0060968" "hypotrichosis 15" "hypotrichosis"
"DOID:0110699" "hypotrichosis 2" "hypotrichosis"
"DOID:0110700" "hypotrichosis 3" "hypotrichosis"
"DOID:0110701" "hypotrichosis 4" "hypotrichosis"
Expand Down Expand Up @@ -7786,6 +7803,9 @@ id label subClassOf
"DOID:699" "mitochondrial myopathy" "myopathy"
"DOID:0111751" "mitochondrial nonsyndromic sensorineural deafness" "sensorineural hearing loss"
"DOID:0080363" "mitochondrial pyruvate carrier deficiency" "mitochondrial metabolism disease"
"DOID:0070540" "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency" "amino acid metabolic disorder"
"DOID:0070540" "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency" "lipid metabolism disorder"
"DOID:0070540" "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency" "mitochondrial metabolism disease"
"DOID:0111277" "mitochondrial trifunctional protein deficiency" "lipid metabolism disorder"
"DOID:0112100" "mitochondrial type mitochondrial complex I deficiency" "mitochondrial complex I deficiency"
"DOID:0112101" "mitochondrial type mitochondrial complex I deficiency 1" "mitochondrial type mitochondrial complex I deficiency"
Expand Down Expand Up @@ -8234,6 +8254,8 @@ id label subClassOf
"DOID:1289" "neurodegenerative disease" "central nervous system disease"
"DOID:3309" "neurodermatitis" "dermatitis"
"DOID:0081099" "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" "autosomal recessive intellectual developmental disorder"
"DOID:0070543" "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" "amino acid metabolic disorder"
"DOID:0070543" "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" "mitochondrial metabolism disease"
"DOID:0070346" "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "syndrome"
"DOID:0070443" "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction" "autosomal recessive intellectual developmental disorder"
"DOID:0070513" "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities" "autosomal dominant intellectual developmental disorder"
Expand All @@ -8253,6 +8275,8 @@ id label subClassOf
"DOID:0081324" "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss" "autosomal recessive intellectual developmental disorder"
"DOID:0081327" "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" "neurodegenerative disease"
"DOID:0070479" "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties" "diphthamide deficiency syndrome"
"DOID:0070542" "neurodevelopmental disorder with spastic paraplegia and microcephaly" "amino acid metabolic disorder"
"DOID:0070542" "neurodevelopmental disorder with spastic paraplegia and microcephaly" "autosomal recessive intellectual developmental disorder"
"DOID:0070421" "neurodevelopmental disorder with spasticity and poor growth" "autosomal recessive intellectual developmental disorder"
"DOID:0070417" "neurodevelopmental disorder with speech impairment and dysmorphic facies" "autosomal dominant intellectual developmental disorder"
"DOID:171" "neuroectodermal tumor" "nervous system cancer"
Expand Down Expand Up @@ -8628,6 +8652,7 @@ id label subClassOf
"DOID:0080402" "orofacial cleft 9" "orofacial cleft"
"DOID:4501" "orofaciodigital syndrome" "syndrome"
"DOID:0060316" "orofaciodigital syndrome I" "orofaciodigital syndrome"
"DOID:0060959" "orofaciodigital syndrome II" "orofaciodigital syndrome"
"DOID:0060373" "orofaciodigital syndrome III" "orofaciodigital syndrome"
"DOID:0060374" "orofaciodigital syndrome IV" "orofaciodigital syndrome"
"DOID:0060382" "orofaciodigital syndrome IX" "orofaciodigital syndrome"
Expand All @@ -8636,8 +8661,12 @@ id label subClassOf
"DOID:0060378" "orofaciodigital syndrome VIII" "orofaciodigital syndrome"
"DOID:0060380" "orofaciodigital syndrome X" "orofaciodigital syndrome"
"DOID:0060381" "orofaciodigital syndrome XI" "orofaciodigital syndrome"
"DOID:0060958" "orofaciodigital syndrome XIV" "orofaciodigital syndrome"
"DOID:0060960" "orofaciodigital syndrome XIX" "orofaciodigital syndrome"
"DOID:0080254" "orofaciodigital syndrome XVI" "orofaciodigital syndrome"
"DOID:0080289" "orofaciodigital syndrome XVII" "orofaciodigital syndrome"
"DOID:0060961" "orofaciodigital syndrome XVIII" "orofaciodigital syndrome"
"DOID:0060962" "orofaciodigital syndrome XX" "orofaciodigital syndrome"
"DOID:0050843" "oromandibular dystonia" "focal dystonia"
"DOID:0050059" "oropharyngeal anthrax" "gastrointestinal anthrax"
"DOID:8557" "oropharynx cancer" "pharynx cancer"
Expand Down Expand Up @@ -9279,6 +9308,8 @@ id label subClassOf
"DOID:0110860" "polycystic kidney disease 3" "autosomal dominant polycystic kidney disease"
"DOID:0080212" "polycystic kidney disease 4" "autosomal recessive polycystic kidney disease"
"DOID:0080273" "polycystic kidney disease 5" "autosomal recessive polycystic kidney disease"
"DOID:0060951" "polycystic kidney disease 6" "autosomal dominant polycystic kidney disease"
"DOID:0060952" "polycystic kidney disease 7" "autosomal dominant polycystic kidney disease"
"DOID:0050770" "polycystic liver disease" "liver disease"
"DOID:11612" "polycystic ovary syndrome" "ovarian dysfunction"
"DOID:8432" "polycythemia" "bone marrow disease"
Expand Down Expand Up @@ -10669,8 +10700,8 @@ id label subClassOf
"DOID:4406" "spongiotic dermatitis" "dermatitis"
"DOID:11771" "spontaneous ocular nystagmus" "pathologic nystagmus"
"DOID:1672" "spontaneous tension pneumothorax" "pneumothorax"
"DOID:0080917" "sporadic amyotrophic lateral sclerosis" "amyotrophic lateral sclerosis"
"DOID:8029" "sporadic breast cancer" "breast carcinoma"
"DOID:0080917" "sporatic amyotrophic lateral sclerosis" "amyotrophic lateral sclerosis"
"DOID:14484" "sporotrichosis" "primary systemic mycosis"
"DOID:11104" "spotted fever" "primary bacterial infectious disease"
"DOID:13825" "squamous blepharitis" "blepharitis"
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2 changes: 2 additions & 0 deletions DOreports/ICD10inDO.tsv
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Expand Up @@ -385,6 +385,8 @@ id label xrefs
"DOID:0060896" "Parkinson's disease 23"@en "ICD10CM:G20"
"DOID:0060901" "lymphoplasmacytic lymphoma"@en "ICD10CM:C88.0"
"DOID:0060911" "karyomegalic interstitial nephritis"@en "ICD10CM:N11.8"
"DOID:0060936" "dystonia 28, childhood-onset"@en "ICD10CM:G24.8"
"DOID:0060963" "dystonia, DOPA-responsive" "ICD10CM:G24.1"
"DOID:0070111" "Niemann-Pick disease type A"@en "ICD10CM:E75.2"
"DOID:0070112" "Niemann-Pick disease type B"@en "ICD10CM:E75.2"
"DOID:0070113" "Niemann-Pick disease type C1"@en "ICD10CM:E75.2"
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5 changes: 4 additions & 1 deletion DOreports/MESHinDO.tsv
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Expand Up @@ -136,7 +136,7 @@ id label xrefs
"DOID:0050692" "Brody myopathy"@en "MESH:C536607"
"DOID:0050694" "Brown-Vialetto-Van Laere syndrome"@en "MESH:C537111"
"DOID:0050697" "chorioamnionitis"@en "MESH:D002821"
"DOID:0050699" "Dent disease"@en "MESH:D057973, MESH:C564487, MESH:C538212"
"DOID:0050699" "Dent disease"@en "MESH:D057973"
"DOID:0050700" "cardiomyopathy"@en "MESH:D009202"
"DOID:0050722" "PHGDH deficiency"@en "MESH:C566618"
"DOID:0050731" "vitamin B12 deficiency"@en "MESH:D014806"
Expand Down Expand Up @@ -570,6 +570,7 @@ id label xrefs
"DOID:0070518" "familial multiple lipomatosis"@en "MESH:D000071070"
"DOID:0070521" "peeling skin syndrome 2"@en "MESH:C536316"
"DOID:0070523" "peeling skin syndrome 4"@en "MESH:C564309"
"DOID:0070541" "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"@en "MESH:C538324"
"DOID:0080001" "bone disease"@en "MESH:D001847"
"DOID:0080011" "bone resorption disease"@en "MESH:D001862"
"DOID:0080016" "spina bifida"@en "MESH:D016135"
Expand Down Expand Up @@ -730,6 +731,8 @@ id label xrefs
"DOID:0081307" "lymphomatoid granulomatosis"@en "MESH:D008230"
"DOID:0081312" "T-cell non-Hodgkin lymphoma"@en "MESH:D016399"
"DOID:0081329" "glycogen storage disease I"@en "MESH:D005953"
"DOID:0081453" "Dent disease 1"@en "MESH:C538212"
"DOID:0081454" "Dent disease 2"@en "MESH:C564487"
"DOID:0090001" "Fraser syndrome"@en "MESH:D058497"
"DOID:0090002" "Tietz syndrome"@en "MESH:C536919"
"DOID:0090012" "severe combined immunodeficiency with sensitivity to ionizing radiation"@en "MESH:C537589"
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2 changes: 2 additions & 0 deletions DOreports/NCIinDO.tsv
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Expand Up @@ -235,6 +235,8 @@ id label xrefs
"DOID:0070491" "mitochondrial complex IV deficiency nuclear type 1"@en "NCI:C176895"
"DOID:0070509" "Schinzel Giedion syndrome"@en "NCI:C129308"
"DOID:0070538" "syndromic X-linked intellectual developmental disorder bain type"@en "NCI:C183311"
"DOID:0070540" "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"@en "NCI:C174218"
"DOID:0070541" "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"@en "NCI:C84523"
"DOID:0080016" "spina bifida"@en "NCI:C101214"
"DOID:0080041" "hypochondroplasia"@en "NCI:C118697"
"DOID:0080072" "intestinal pseudo-obstruction"@en "NCI:C34733"
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