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January 2024 release
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allenbaron committed Jan 31, 2024
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4 changes: 2 additions & 2 deletions DOreports/DO-equivalentClass.tsv
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Expand Up @@ -308,7 +308,7 @@ DOID:1891 optic nerve disease disease and ('disease has location' some 'cranial
DOID:1909 melanoma cancer and ('derives from' some melanocyte)
DOID:1925 Coffin-Siris syndrome syndrome and ('disease has location' some 'digit 5')
DOID:193 reproductive organ cancer cancer and ('disease has location' some 'reproductive system')
DOID:1931 hypothalamic disease 'thalamic disease' and ('disease has location' some hypothalamus)
DOID:1931 hypothalamic disease disease and ('disease has location' some hypothalamus)
DOID:1962 fallopian tube disease disease and ('disease has location' some 'fallopian tube')
DOID:1964 fallopian tube cancer cancer and ('disease has location' some 'fallopian tube')
DOID:1965 fallopian tube leiomyosarcoma leiomyosarcoma and ('disease has location' some 'fallopian tube')
Expand Down Expand Up @@ -436,7 +436,7 @@ DOID:3571 liver cancer cancer and ('disease has location' some liver)
DOID:3572 intracranial sinus thrombosis thrombosis and ('disease has location' some 'cranial cavity')
DOID:3620 central nervous system cancer cancer and ('disease has location' some 'central nervous system')
DOID:363 uterine cancer cancer and ('disease has location' some uterus)
DOID:3644 hypothalamic neoplasm 'thalamic neoplasm' and ('disease has location' some brain)
DOID:3644 hypothalamic neoplasm cancer and ('disease has location' some hypothalamus)
DOID:365 bladder disease disease and ('disease has location' some 'urinary bladder')
DOID:3663 cutaneous mastocytosis mastocytosis and ('disease has location' some 'zone of skin')
DOID:3664 mast cell neoplasm cancer and ('derives from' some 'mast cell')
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47 changes: 32 additions & 15 deletions DOreports/DO-subClassOf-anonymous.tsv
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Expand Up @@ -504,6 +504,7 @@ DOID:0060268 pontocerebellar hypoplasia type 2B 'has material basis in' some 'au
DOID:0060269 pontocerebellar hypoplasia type 2C 'has material basis in' some 'autosomal recessive inheritance'
DOID:0060270 pontocerebellar hypoplasia type 2D 'has material basis in' some 'autosomal recessive inheritance'
DOID:0060271 pontocerebellar hypoplasia type 2E 'has material basis in' some 'autosomal recessive inheritance'
DOID:0060283 peeling skin syndrome 'has material basis in' some 'autosomal recessive inheritance'|'has symptom' some 'skin peeling'
DOID:0060289 Ohdo syndrome 'has symptom' some ptosis
DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type 'has symptom' some ptosis
DOID:0060292 X-linked chondrodysplasia punctata 1 'has material basis in' some 'X-linked recessive inheritance'
Expand Down Expand Up @@ -838,6 +839,9 @@ DOID:0060925 otosclerosis 7 'has material basis in' some 'autosomal dominant inh
DOID:0060926 otosclerosis 8 'has material basis in' some 'autosomal dominant inheritance'
DOID:0060927 otosclerosis 10 'has material basis in' some 'autosomal dominant inheritance'
DOID:0060928 otosclerosis 11 'has material basis in' some 'autosomal dominant inheritance'
DOID:0060930 developmental dysplasia of the hip 'disease has location' some hip
DOID:0060931 developmental dysplasia of the hip 1 'has material basis in' some 'autosomal dominant inheritance'
DOID:0060932 developmental dysplasia of the hip 2 'has material basis in' some 'autosomal dominant inheritance'
DOID:0070000 3-methylglutaconic aciduria type 8 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070002 3-methylglutaconic aciduria type 9 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070014 autosomal dominant dyskeratosis congenita 1 'has material basis in' some 'autosomal dominant inheritance'
Expand Down Expand Up @@ -1122,7 +1126,7 @@ DOID:0070471 early-onset epilepsy 2 'existence starts during' some ('Infantile o
DOID:0070472 early-onset epilepsy 3 'existence starts during' some ('Infantile onset' or 'Childhood onset')|'has material basis in' some 'autosomal dominant inheritance'
DOID:0070473 Zaki syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070474 childhood-onset neurodegeneration with brain atrophy 'has material basis in' some 'autosomal dominant inheritance'
DOID:0070475 renal medullary carcinoma 'disease has location' some 'renal medulla'
DOID:0070475 SMARCB1-deficient renal medullary carcinoma 'disease has location' some 'renal medulla'
DOID:0070476 diphthamide deficiency syndrome 'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some 'Global developmental delay'|'has phenotype' some 'Short stature'|'has phenotype' some 'Sparse hair'
DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 'has phenotype' some 'Absent speech'|'has phenotype' some 'Delayed ability to walk'|'has phenotype' some 'Difficulty walking'|'has phenotype' some 'Feeding difficulties'
DOID:0070482 spinal neurofibromatosis 'disease has location' some 'spinal nerve root'
Expand Down Expand Up @@ -1156,6 +1160,13 @@ DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratos
DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy 'existence starts during' some 'Fetal onset'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay 'has material basis in' some 'autosomal inheritance'
DOID:0070516 Mitchell syndrome 'has material basis in' some 'autosomal dominant inheritance'
DOID:0070518 familial multiple lipomatosis 'has material basis in' some 'autosomal dominant inheritance'
DOID:0070526 PLACK syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070527 Borrelia miyamotoi disease 'has material basis in' some 'Borrelia miyamotoi'|'has symptom' some 'joint pain'|'has symptom' some 'muscle pain'|'has symptom' some asthenia|'has symptom' some chills|'has symptom' some fatigue|'has symptom' some fever|'has symptom' some headache|'has symptom' some nausea|'transmitted by' some 'tick borne transmission'|('transmitted by' some 'Ixodes pacificus') or ('transmitted by' some 'Ixodes ricinus') or ('transmitted by' some 'Ixodes persulcatus') or ('transmitted by' some 'Ixodes scapularis')
DOID:0070528 cepacia syndrome 'disease has feature' some 'adult respiratory distress syndrome'|'has material basis in' some 'Burkholderia cepacia complex'|('transmitted by' some 'contact transmission') or ('transmitted by' some 'droplet spread transmission') or ('transmitted by' some 'vehicle-borne fomite transmission') or ('transmitted by' some 'vehicle-borne ingestion transmission')
DOID:0070530 foveal hypoplasia 1 'has material basis in' some 'autosomal dominant inheritance'
DOID:0070531 foveal hypoplasia 2 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070532 aniridia 1 'has material basis in' some 'autosomal dominant inheritance'
DOID:0080007 bone deterioration disease 'disease has location' some 'bone element'
DOID:0080010 bone structure disease 'has phenotype' some 'Abnormal bone structure'
DOID:0080020 Jansen's metaphyseal chondrodysplasia 'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Disproportionate short-limb short stature'
Expand Down Expand Up @@ -1593,7 +1604,7 @@ DOID:0080764 hereditary diffuse gastric cancer 'has material basis in' some 'aut
DOID:0080766 erythrokeratodermia variabilis et progressiva 6 'has material basis in' some 'autosomal dominant inheritance'
DOID:0080767 autoimmune myocarditis ('has symptom' some inflammation) and ('disease has location' some myocardium)
DOID:0080768 pyridoxine-dependent epilepsy 'has material basis in' some 'autosomal recessive inheritance'
DOID:0080769 early-onset vitamin B6-dependent epilepsy 'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some 'Abnormality of vitamin B metabolism'
DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some 'Abnormality of vitamin B metabolism'
DOID:0080770 autosomal dominant beta thalassemia 'has material basis in' some 'autosomal dominant inheritance'
DOID:0080771 beta-thalassemia major 'has material basis in' some 'autosomal recessive inheritance'
DOID:0080772 beta-thalassemia intermedia 'has material basis in' some 'autosomal recessive inheritance'
Expand Down Expand Up @@ -1877,6 +1888,13 @@ DOID:0081395 Harel-Yoon syndrome 'has material basis in' some 'autosomal dominan
DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 'existence starts during' some 'Neonatal onset'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0081397 Vissers-Bodmer syndrome 'has material basis in' some 'autosomal dominant inheritance'
DOID:0081398 holoprosencephaly 12 'existence starts during' some 'Congenital onset'|'has material basis in' some 'autosomal dominant inheritance'
DOID:0081405 childhood sarcoma with BCOR genetic alterations 'existence starts during' some 'Childhood onset'
DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion 'existence starts during' some 'Childhood onset'
DOID:0081416 childhood renal cell carcinoma with MiT translocations 'existence starts during' some 'Childhood onset'
DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 'existence starts during' some 'Childhood onset'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0081420 familial focal epilepsy with variable foci 'has material basis in' some 'autosomal dominant inheritance'
DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 'existence starts during' some 'Congenital onset'
DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 'existence starts during' some 'Juvenile onset'
DOID:0090001 Fraser syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0090002 Tietz syndrome 'has material basis in' some 'autosomal dominant inheritance'
DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy 'has material basis in' some 'autosomal recessive inheritance'
Expand Down Expand Up @@ -2590,8 +2608,8 @@ DOID:0111057 platelet-type bleeding disorder 11 'has material basis in' some 'au
DOID:0111058 platelet-type bleeding disorder 12 'has material basis in' some 'autosomal dominant inheritance'|'has symptom' some bleeding
DOID:0111059 Bernard-Soulier syndrome type A2 'has symptom' some bleeding
DOID:0111063 hyperphosphatemic familial tumoral calcinosis 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111064 distal spinal muscular atrophy 1 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111065 distal spinal muscular atrophy 2 'has material basis in' some 'autosomal recessive inheritance'|'has symptom' some 'muscle weakness'
DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 'has material basis in' some 'autosomal recessive inheritance'|'has symptom' some 'muscle weakness'
DOID:0111066 congenital bile acid synthesis defect 5 'disease has basis in' some 'Abnormality of prenatal development or birth'|'disease has basis in' some structural_variant|'has symptom' some 'left upper quadrant abdominal rigidity'
DOID:0111067 congenital bile acid synthesis defect 6 'disease has basis in' some 'Abnormality of prenatal development or birth'|'disease has basis in' some structural_variant
DOID:0111068 congenital bile acid synthesis defect 4 'disease has basis in' some 'Abnormality of prenatal development or birth'|'disease has basis in' some structural_variant
Expand Down Expand Up @@ -2673,16 +2691,15 @@ DOID:0111195 erythrokeratodermia variabilis et progressiva 1 'has material basis
DOID:0111196 X-linked distal spinal muscular atrophy 3 'has material basis in' some 'X-linked recessive inheritance'|'has symptom' some 'muscle weakness'
DOID:0111197 autosomal recessive distal hereditary motor neuronopathy 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111198 autosomal dominant distal hereditary motor neuronopathy 'has material basis in' some 'autosomal dominant inheritance'
DOID:0111199 distal hereditary motor neuronopathy type 7 'has symptom' some 'muscle weakness'
DOID:0111200 distal hereditary motor neuronopathy type 1 'has symptom' some 'muscle weakness'
DOID:0111201 distal hereditary motor neuronopathy type 7A 'has symptom' some 'muscle weakness'
DOID:0111203 distal hereditary motor neuronopathy type 5 'has symptom' some 'muscle weakness'
DOID:0111206 distal hereditary motor neuronopathy type 2 'has symptom' some 'muscle weakness'
DOID:0111211 distal spinal muscular atrophy type 3 'has symptom' some 'muscle weakness'
DOID:0111212 distal hereditary motor neuronopathy type 9 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111213 distal spinal muscular atrophy type 4 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111214 distal spinal muscular atrophy type 5 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111215 distal hereditary motor neuronopathy type 8 'has symptom' some 'muscle weakness'
DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 'has symptom' some 'muscle weakness'
DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 'has symptom' some 'muscle weakness'
DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 'has symptom' some 'muscle weakness'
DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 'has symptom' some 'muscle weakness'
DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 'has symptom' some 'muscle weakness'
DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 'has symptom' some 'muscle weakness'
DOID:0111216 autosomal recessive centronuclear myopathy 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111217 autosomal dominant centronuclear myopathy 'has material basis in' some 'autosomal dominant inheritance'
DOID:0111223 centronuclear myopathy 1 'has symptom' some 'muscle weakness'|'has symptom' some 'progressive weakness'
Expand Down Expand Up @@ -4614,7 +4631,7 @@ DOID:4603 epidermolytic hyperkeratosis 'existence starts during' some 'Congenita
DOID:4621 holoprosencephaly 'disease has basis in' some symptom
DOID:4659 extracutaneous mastocytoma cancer and ('derives from' some 'mast cell')
DOID:4660 indolent systemic mastocytosis 'derives from' some 'mast cell'
DOID:4667 kyphosis 'has phenotype' some 'Abnormal curvature of the vertebral column'|disease and ('disease has location' some 'vertebral column')
DOID:4667 kyphosis 'disease has location' some 'vertebral column'|'has phenotype' some 'Abnormal curvature of the vertebral column'
DOID:467 venous hemangioma 'derives from' some 'endothelial cell'|'disease has location' some 'blood vessel'
DOID:4677 keratitis 'has symptom' some inflammation
DOID:4678 thymus mucoepidermoid carcinoma 'disease has location' some thymus
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11 changes: 8 additions & 3 deletions DOreports/GARDinDO.tsv
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Expand Up @@ -270,6 +270,7 @@ id label xrefs
"DOID:0060275" "pontocerebellar hypoplasia type 6" "GARD:10710"
"DOID:0060280" "primary pigmented nodular adrenocortical disease" "GARD:10906"
"DOID:0060281" "photosensitive epilepsy" "GARD:5648"
"DOID:0060283" "peeling skin syndrome" "GARD:7347"
"DOID:0060284" "paroxysmal nocturnal hemoglobinuria" "GARD:7337"
"DOID:0060286" "combined oxidative phosphorylation deficiency" "GARD:12893"
"DOID:0060291" "oculodentodigital dysplasia" "GARD:7239"
Expand Down Expand Up @@ -477,13 +478,15 @@ id label xrefs
"DOID:0070452" "xanthinuria type I"@en "GARD:5621"
"DOID:0070453" "xanthinuria type II"@en "GARD:5620"
"DOID:0070474" "childhood-onset neurodegeneration with brain atrophy"@en "GARD:13658"
"DOID:0070475" "renal medullary carcinoma"@en "GARD:13175"
"DOID:0070475" "SMARCB1-deficient renal medullary carcinoma"@en "GARD:13175"
"DOID:0070484" "Legius syndrome" "GARD:10714"
"DOID:0070489" "classic dopamine transporter deficiency syndrome" "GARD:10484"
"DOID:0070490" "infantile parkinsonism-dystonia 2" "GARD:13594"
"DOID:0070509" "Schinzel Giedion syndrome"@en "GARD:117"
"DOID:0070511" "polyhydramnios, megalencephaly, and symptomatic epilepsy"@en "GARD:12913"
"DOID:0070515" "chromosome 16p11.2 deletion syndrome, 593-kb"@en "GARD:10740"
"DOID:0070518" "familial multiple lipomatosis"@en "GARD:12925"
"DOID:0070521" "peeling skin syndrome 2" "GARD:12863"
"DOID:0080016" "spina bifida" "GARD:7673"
"DOID:0080021" "Schmid metaphyseal chondrodysplasia" "GARD:7029"
"DOID:0080028" "spondyloepimetaphyseal dysplasia, Strudwick type" "GARD:134"
Expand Down Expand Up @@ -629,7 +632,7 @@ id label xrefs
"DOID:0080763" "diffuse gastric cancer"@en "GARD:10334"
"DOID:0080764" "hereditary diffuse gastric cancer"@en "GARD:10900"
"DOID:0080767" "autoimmune myocarditis"@en "GARD:9519"
"DOID:0080768" "pyridoxine-dependent epilepsy"@en "GARD:9298"
"DOID:0080768" "pyridoxine-dependent epilepsy" "GARD:9298"
"DOID:0080776" "partial androgen insensitivity syndrome"@en "GARD:5692"
"DOID:0080778" "transient infantile liver failure"@en "GARD:10593"
"DOID:0080833" "laryngomalacia"@en "GARD:6865"
Expand Down Expand Up @@ -700,6 +703,8 @@ id label xrefs
"DOID:0081390" "progressive non-fluent aphasia"@en "GARD:10793"
"DOID:0081391" "semantic dementia"@en "GARD:10792"
"DOID:0081394" "Caroli syndrome"@en "GARD:6002"
"DOID:0081419" "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities"@en "GARD:13488"
"DOID:0081420" "familial focal epilepsy with variable foci"@en "GARD:13295"
"DOID:0090001" "Fraser syndrome" "GARD:6465"
"DOID:0090002" "Tietz syndrome" "GARD:7772"
"DOID:0090005" "Schwartz-Jampel syndrome 1" "GARD:250"
Expand Down Expand Up @@ -862,7 +867,7 @@ id label xrefs
"DOID:0111052" "Scott syndrome" "GARD:4777"
"DOID:0111060" "Ambras type hypertrichosis universalis congenita" "GARD:8206"
"DOID:0111063" "hyperphosphatemic familial tumoral calcinosis" "GARD:10879"
"DOID:0111065" "distal spinal muscular atrophy 2" "GARD:10133"
"DOID:0111065" "autosomal recessive distal hereditary motor neuronopathy 2" "GARD:10133"
"DOID:0111068" "congenital bile acid synthesis defect 4" "GARD:10046"
"DOID:0111069" "congenital bile acid synthesis defect 2" "GARD:10045"
"DOID:0111071" "congenital bile acid synthesis defect 1" "GARD:9813"
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