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DO August 2024 release
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allenbaron committed Aug 29, 2024
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2 changes: 1 addition & 1 deletion DOreports/DO-equivalentClass.tsv
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Expand Up @@ -473,7 +473,7 @@ DOID:4138 bile duct disease disease and ('disease has location' some 'bile duct'
DOID:4141 intraorbital meningioma meningioma and ('disease has location' some 'orbital region')
DOID:4143 orbital cancer cancer and ('disease has location' some 'orbital region')
DOID:4159 skin cancer cancer and ('disease has location' some 'zone of skin')
DOID:417 autoimmune disease disease and ('has phenotype' some 'Abnormal immunoglobulin level')
DOID:417 autoimmune disease disease and ('has phenotype' some 'Abnormal circulating immunoglobulin concentration')
DOID:4193 intracranial thrombosis thrombosis and ('disease has location' some brain)
DOID:4196 femoral neuropathy mononeuropathy and ('disease has location' some 'femoral nerve')
DOID:4203 brain stem cancer cancer and ('disease has location' some brainstem)
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194 changes: 123 additions & 71 deletions DOreports/DO-subClassOf-anonymous.tsv
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2 changes: 1 addition & 1 deletion DOreports/GARDinDO.tsv
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Expand Up @@ -2034,7 +2034,7 @@ id label xrefs
"DOID:8931" "Evans' syndrome"@en "GARD:6389"
"DOID:8955" "sideroblastic anemia"@en "GARD:667"
"DOID:8970" "subacute sclerosing panencephalitis"@en "GARD:7708"
"DOID:898" "autosomal dominant polycystic kidney disease"@en "GARD:7419"
"DOID:898" "autosomal dominant polycystic kidney disease"@en "GARD:10413"
"DOID:8986" "narcolepsy"@en "GARD:7162"
"DOID:899" "choledochal cyst"@en "GARD:9229"
"DOID:8997" "polycythemia vera"@en "GARD:7422"
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52 changes: 42 additions & 10 deletions DOreports/HumanDO.tsv
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Expand Up @@ -1538,6 +1538,11 @@ id label subClassOf
"DOID:0070189" "X-linked spermatogenic failure 1" "Sertoli cell-only syndrome"
"DOID:0070185" "X-linked spermatogenic failure 2" "spermatogenic failure"
"DOID:0112274" "X-linked spermatogenic failure 3" "spermatogenic failure"
"DOID:0070595" "X-linked spermatogenic failure 4" "spermatogenic failure"
"DOID:0070596" "X-linked spermatogenic failure 5" "spermatogenic failure"
"DOID:0070597" "X-linked spermatogenic failure 6" "spermatogenic failure"
"DOID:0070598" "X-linked spermatogenic failure 7" "spermatogenic failure"
"DOID:0070599" "X-linked spermatogenic failure 8" "spermatogenic failure"
"DOID:0111827" "X-linked spinal muscular atrophy 2" "spinal muscular atrophy"
"DOID:0111829" "X-linked spinocerebellar ataxia 1" "X-linked cerebellar ataxia"
"DOID:0111830" "X-linked spinocerebellar ataxia 2" "X-linked cerebellar ataxia"
Expand Down Expand Up @@ -2125,7 +2130,7 @@ id label subClassOf
"DOID:12273" "anisometropia" "refractive error"
"DOID:0090119" "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "ectodermal dysplasia"
"DOID:0060604" "ankyloglossia" "tongue disease"
"DOID:7147" "ankylosing spondylitis" "bone inflammation disease"
"DOID:7147" "ankylosing spondylitis" "arthritis"
"DOID:0080603" "ankylosing spondylitis 1" "ankylosing spondylitis"
"DOID:0080604" "ankylosing spondylitis 2" "ankylosing spondylitis"
"DOID:0080605" "ankylosing spondylitis 3" "ankylosing spondylitis"
Expand All @@ -2145,7 +2150,7 @@ id label subClassOf
"DOID:4436" "anterior cranial fossa meningioma" "meningioma"
"DOID:2460" "anterior dislocation of lens" "globe disease"
"DOID:6381" "anterior foramen magnum meningioma" "foramen magnum meningioma"
"DOID:4873" "anterior horn cell disease" "spinal muscular atrophy"
"DOID:4873" "anterior horn cell disease" "motor neuron disease"
"DOID:12010" "anterior ischemic optic neuropathy" "optic nerve disease"
"DOID:6334" "anterior optic tract meningioma" "meningioma"
"DOID:13794" "anterior scleritis" "scleritis"
Expand Down Expand Up @@ -2571,7 +2576,6 @@ id label subClassOf
"DOID:0110575" "autosomal dominant nonsyndromic deafness 5" "autosomal dominant nonsyndromic deafness"
"DOID:0110576" "autosomal dominant nonsyndromic deafness 50" "autosomal dominant nonsyndromic deafness"
"DOID:0110577" "autosomal dominant nonsyndromic deafness 51" "autosomal dominant nonsyndromic deafness"
"DOID:0110578" "autosomal dominant nonsyndromic deafness 52" "autosomal dominant nonsyndromic deafness"
"DOID:0110579" "autosomal dominant nonsyndromic deafness 53" "autosomal dominant nonsyndromic deafness"
"DOID:0110580" "autosomal dominant nonsyndromic deafness 54" "autosomal dominant nonsyndromic deafness"
"DOID:0110581" "autosomal dominant nonsyndromic deafness 56" "autosomal dominant nonsyndromic deafness"
Expand Down Expand Up @@ -4817,6 +4821,7 @@ id label subClassOf
"DOID:9743" "diabetic neuropathy" "neuropathy"
"DOID:12785" "diabetic polyneuropathy" "diabetic neuropathy"
"DOID:8947" "diabetic retinopathy" "retinal vascular disease"
"DOID:0070564" "dialysis disequilibrium syndrome" "syndrome"
"DOID:0080928" "dialysis-related amyloidosis" "amyloidosis"
"DOID:10481" "diaphragm disease" "muscular disease"
"DOID:7103" "diaphragma sellae meningioma" "sella turcica neoplasm"
Expand Down Expand Up @@ -4908,7 +4913,6 @@ id label subClassOf
"DOID:0081161" "dilated cardiomyopathy 2E" "dilated cardiomyopathy"
"DOID:0081162" "dilated cardiomyopathy 2F" "dilated cardiomyopathy"
"DOID:0081163" "dilated cardiomyopathy 2G" "dilated cardiomyopathy"
"DOID:0081164" "dilated cardiomyopathy 3B" "dilated cardiomyopathy"
"DOID:0111584" "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" "syndrome"
"DOID:0081006" "dill allergy" "vegetable allergy"
"DOID:0081446" "dimethylglycine dehydrogenase deficiency" "amino acid metabolic disorder"
Expand Down Expand Up @@ -4977,6 +4981,7 @@ id label subClassOf
"DOID:13254" "diverticulitis of colon" "colonic disease"
"DOID:0111340" "dominant optic atrophy plus syndrome" "syndrome"
"DOID:0110420" "dominant pericentral pigmentary retinopathy" "retinitis pigmentosa"
"DOID:0090043" "dopa-responsive dystonia" "dystonia"
"DOID:0090145" "dopamine beta-hydroxylase deficiency" "inherited metabolic disorder"
"DOID:0070487" "dopamine transporter deficiency syndrome" "movement disease"
"DOID:6406" "double outlet right ventricle" "ventricular septal defect"
Expand Down Expand Up @@ -5041,10 +5046,8 @@ id label subClassOf
"DOID:0060940" "dystonia 33" "dystonia"
"DOID:0060955" "dystonia 35, childhood-onset" "dystonia"
"DOID:0060956" "dystonia 37, early-onset with striatal lesions" "dystonia"
"DOID:0090043" "dystonia 5" "dystonia"
"DOID:0090044" "dystonia 9" "dystonia"
"DOID:0090044" "dystonia 9" "glucose transporter type 1 deficiency syndrome"
"DOID:0060963" "dystonia, DOPA-responsive" "dystonia"
"DOID:0080219" "dystransthyretinemic hyperthyroxinemia" "hyperthyroxinemia"
"DOID:14252" "dystrophies primarily involving the retinal pigment epithelium" "fundus dystrophy"
"DOID:5101" "ear cancer" "auditory system cancer"
Expand Down Expand Up @@ -6834,7 +6837,6 @@ id label subClassOf
"DOID:1059" "intellectual disability" "specific developmental disorder"
"DOID:0111331" "intellectual disability-severe speech delay-mild dysmorphism syndrome" "syndromic intellectual disability"
"DOID:7848" "interdigitating dendritic cell sarcoma" "histiocytic and dendritic cell cancer"
"DOID:0060015" "interleukin-7 receptor alpha deficiency" "severe combined immunodeficiency"
"DOID:6996" "intermediate cell type choroid melanoma" "intraocular mixed cell type melanoma"
"DOID:6996" "intermediate cell type choroid melanoma" "malignant choroid melanoma"
"DOID:6997" "intermediate cell type ciliary body melanoma" "intraocular mixed cell type melanoma"
Expand Down Expand Up @@ -7016,7 +7018,7 @@ id label subClassOf
"DOID:0111324" "juvenile absence epilepsy 1" "juvenile absence epilepsy"
"DOID:0081381" "juvenile amyotrophic lateral sclerosis type 27" "amyotrophic lateral sclerosis"
"DOID:0110067" "juvenile amyotrophic lateral sclerosis with dementia" "amyotrophic lateral sclerosis"
"DOID:0040092" "juvenile ankylosing spondylitis" "autoimmune disease of musculoskeletal system"
"DOID:0040092" "juvenile ankylosing spondylitis" "ankylosing spondylitis"
"DOID:8507" "juvenile dermatitis herpetiformis" "dermatitis herpetiformis"
"DOID:1068" "juvenile glaucoma" "primary open angle glaucoma"
"DOID:0050458" "juvenile myelomonocytic leukemia" "myelodysplastic/myeloproliferative neoplasm"
Expand Down Expand Up @@ -9344,8 +9346,8 @@ id label subClassOf
"DOID:0050770" "polycystic liver disease" "liver disease"
"DOID:0060980" "polycystic liver disease 1" "polycystic liver disease"
"DOID:0060975" "polycystic liver disease 2" "polycystic liver disease"
"DOID:0060976" "polycystic liver disease 3 with or without kidney cysts" "polycystic liver disease"
"DOID:0060977" "polycystic liver disease 4 with or without kidney cysts" "polycystic liver disease"
"DOID:0060976" "polycystic liver disease 3" "polycystic liver disease"
"DOID:0060977" "polycystic liver disease 4" "polycystic liver disease"
"DOID:11612" "polycystic ovary syndrome" "ovarian dysfunction"
"DOID:8432" "polycythemia" "bone marrow disease"
"DOID:2835" "polycythemia due to hypoxia" "acquired polycythemia"
Expand Down Expand Up @@ -10567,9 +10569,39 @@ id label subClassOf
"DOID:0112356" "spermatogenic failure 63" "spermatogenic failure"
"DOID:0112353" "spermatogenic failure 64" "spermatogenic failure"
"DOID:0112354" "spermatogenic failure 65" "spermatogenic failure"
"DOID:0070565" "spermatogenic failure 66" "male infertility due to globozoospermia"
"DOID:0070566" "spermatogenic failure 67" "male infertility due to globozoospermia"
"DOID:0070567" "spermatogenic failure 68" "spermatogenic failure"
"DOID:0070568" "spermatogenic failure 69" "spermatogenic failure"
"DOID:0070173" "spermatogenic failure 7" "spermatogenic failure"
"DOID:0070569" "spermatogenic failure 70" "spermatogenic failure"
"DOID:0070570" "spermatogenic failure 71" "spermatogenic failure"
"DOID:0070571" "spermatogenic failure 72" "spermatogenic failure"
"DOID:0070572" "spermatogenic failure 73" "spermatogenic failure"
"DOID:0070573" "spermatogenic failure 74" "spermatogenic failure"
"DOID:0070574" "spermatogenic failure 75" "spermatogenic failure"
"DOID:0070575" "spermatogenic failure 76" "spermatogenic failure"
"DOID:0070576" "spermatogenic failure 77" "spermatogenic failure"
"DOID:0070577" "spermatogenic failure 78" "spermatogenic failure"
"DOID:0070578" "spermatogenic failure 79" "spermatogenic failure"
"DOID:0070169" "spermatogenic failure 8" "spermatogenic failure"
"DOID:0070579" "spermatogenic failure 80" "spermatogenic failure"
"DOID:0070580" "spermatogenic failure 81" "spermatogenic failure"
"DOID:0070581" "spermatogenic failure 82" "spermatogenic failure"
"DOID:0070582" "spermatogenic failure 83" "spermatogenic failure"
"DOID:0070583" "spermatogenic failure 84" "spermatogenic failure"
"DOID:0070584" "spermatogenic failure 85" "male infertility due to globozoospermia"
"DOID:0070585" "spermatogenic failure 86" "spermatogenic failure"
"DOID:0070586" "spermatogenic failure 87" "spermatogenic failure"
"DOID:0070587" "spermatogenic failure 88" "spermatogenic failure"
"DOID:0070588" "spermatogenic failure 89" "spermatogenic failure"
"DOID:0111156" "spermatogenic failure 9" "male infertility due to globozoospermia"
"DOID:0070589" "spermatogenic failure 90" "spermatogenic failure"
"DOID:0070590" "spermatogenic failure 91" "spermatogenic failure"
"DOID:0070591" "spermatogenic failure 92" "spermatogenic failure"
"DOID:0070592" "spermatogenic failure 93" "spermatogenic failure"
"DOID:0070593" "spermatogenic failure 94" "spermatogenic failure"
"DOID:0070594" "spermatogenic failure 95" "spermatogenic failure"
"DOID:7820" "sphenocavernous meningioma" "skull base meningioma"
"DOID:7679" "sphenoid sinus Schneiderian papilloma" "sphenoidal sinus benign neoplasm"
"DOID:7678" "sphenoid sinus inverted papilloma" "sphenoidal sinus benign neoplasm"
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4 changes: 1 addition & 3 deletions DOreports/ICD10inDO.tsv
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Expand Up @@ -386,7 +386,6 @@ id label xrefs
"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"@en "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"
Expand Down Expand Up @@ -491,7 +490,7 @@ id label xrefs
"DOID:0090039" "torsion dystonia 6"@en "ICD10CM:G24.1"
"DOID:0090041" "torsion dystonia 4"@en "ICD10CM:G24.1"
"DOID:0090042" "torsion dystonia 17"@en "ICD10CM:G24.1"
"DOID:0090043" "dystonia 5"@en "ICD10CM:G24.1"
"DOID:0090043" "dopa-responsive dystonia" "ICD10CM:G24.1"
"DOID:0090044" "dystonia 9"@en "ICD10CM:G24.8"
"DOID:0090045" "glucose transporter type 1 deficiency syndrome 2"@en "ICD10CM:G24.8"
"DOID:0090046" "dystonia 21"@en "ICD10CM:G24.1"
Expand Down Expand Up @@ -1045,7 +1044,6 @@ id label xrefs
"DOID:0110575" "autosomal dominant nonsyndromic deafness 5"@en "ICD10CM:H90.3"
"DOID:0110576" "autosomal dominant nonsyndromic deafness 50"@en "ICD10CM:H90.3"
"DOID:0110577" "autosomal dominant nonsyndromic deafness 51"@en "ICD10CM:H90.3"
"DOID:0110578" "autosomal dominant nonsyndromic deafness 52"@en "ICD10CM:H90.3"
"DOID:0110579" "autosomal dominant nonsyndromic deafness 53"@en "ICD10CM:H90.3"
"DOID:0110580" "autosomal dominant nonsyndromic deafness 54"@en "ICD10CM:H90.3"
"DOID:0110581" "autosomal dominant nonsyndromic deafness 56"@en "ICD10CM:H90.3"
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1 change: 0 additions & 1 deletion DOreports/MESHinDO.tsv
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Expand Up @@ -3261,7 +3261,6 @@ id label xrefs
"DOID:4844" "benign ependymoma"@en "MESH:D004806"
"DOID:4851" "pilocytic astrocytoma"@en "MESH:D001254"
"DOID:4866" "salivary gland adenoid cystic carcinoma"@en "MESH:D003528"
"DOID:4873" "anterior horn cell disease"@en "MESH:D016472"
"DOID:4885" "Colorado tick fever"@en "MESH:D003121"
"DOID:4889" "lymph node tuberculosis"@en "MESH:D018601, MESH:D014388"
"DOID:4890" "juvenile myoclonic epilepsy"@en "MESH:D020190"
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1 change: 1 addition & 0 deletions DOreports/NCIinDO.tsv
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Expand Up @@ -238,6 +238,7 @@ id label xrefs
"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:0070562" "Fanconi-Bickel syndrome"@en "NCI:C168998"
"DOID:0070564" "dialysis disequilibrium syndrome"@en "NCI:C114781"
"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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47 changes: 39 additions & 8 deletions DOreports/OMIMinDO.tsv
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Expand Up @@ -568,7 +568,6 @@ id label xrefs
"DOID:0060490" "Schimke immuno-osseous dysplasia"@en "MIM:242900"
"DOID:0060491" "SPOAN syndrome"@en "MIM:609541"
"DOID:0060535" "Warsaw breakage syndrome"@en "MIM:613398"
"DOID:0060536" "mitochondrial complex I deficiency"@en "MIM:252010"
"DOID:0060537" "mitochondrial complex II deficiency"@en "MIM:252011"
"DOID:0060539" "Hermansky-Pudlak syndrome 1"@en "MIM:203300"
"DOID:0060540" "Hermansky-Pudlak syndrome 2"@en "MIM:608233"
Expand Down Expand Up @@ -905,7 +904,6 @@ id label xrefs
"DOID:0060960" "orofaciodigital syndrome XIX"@en "MIM:620107"
"DOID:0060961" "orofaciodigital syndrome XVIII"@en "MIM:617927"
"DOID:0060962" "orofaciodigital syndrome XX"@en "MIM:620718"
"DOID:0060963" "dystonia, DOPA-responsive"@en "MIM:128230"
"DOID:0060964" "Loeys-Dietz syndrome 6"@en "MIM:619656"
"DOID:0060965" "episodic ataxia type 9"@en "MIM:618924"
"DOID:0060966" "dystonia 22, juvenile-onset"@en "MIM:620453"
Expand All @@ -918,8 +916,8 @@ id label xrefs
"DOID:0060973" "WHIM syndrome 2"@en "MIM:619407"
"DOID:0060974" "autosomal recessive Robinow syndrome 2"@en "MIM:618529"
"DOID:0060975" "polycystic liver disease 2"@en "MIM:617004"
"DOID:0060976" "polycystic liver disease 3 with or without kidney cysts"@en "MIM:617874"
"DOID:0060977" "polycystic liver disease 4 with or without kidney cysts"@en "MIM:617875"
"DOID:0060976" "polycystic liver disease 3"@en "MIM:617874"
"DOID:0060977" "polycystic liver disease 4"@en "MIM:617875"
"DOID:0060978" "Fanconi anemia complementation group W"@en "MIM:617784"
"DOID:0060979" "Fanconi anemia complementation group S"@en "MIM:617883"
"DOID:0060980" "polycystic liver disease 1"@en "MIM:174050"
Expand Down Expand Up @@ -1427,6 +1425,41 @@ id label xrefs
"DOID:0070561" "glucose transporter type 1 deficiency syndrome 1"@en "MIM:606777"
"DOID:0070562" "Fanconi-Bickel syndrome"@en "MIM:227810"
"DOID:0070563" "glucose-galactose malabsorption"@en "MIM:606824"
"DOID:0070565" "spermatogenic failure 66"@en "MIM:619799"
"DOID:0070566" "spermatogenic failure 67"@en "MIM:619803"
"DOID:0070567" "spermatogenic failure 68"@en "MIM:619805"
"DOID:0070568" "spermatogenic failure 69"@en "MIM:619826"
"DOID:0070569" "spermatogenic failure 70"@en "MIM:619828"
"DOID:0070570" "spermatogenic failure 71"@en "MIM:619831"
"DOID:0070571" "spermatogenic failure 72"@en "MIM:619867"
"DOID:0070572" "spermatogenic failure 73"@en "MIM:619878"
"DOID:0070573" "spermatogenic failure 74"@en "MIM:619937"
"DOID:0070574" "spermatogenic failure 75"@en "MIM:619949"
"DOID:0070575" "spermatogenic failure 76"@en "MIM:620084"
"DOID:0070576" "spermatogenic failure 77"@en "MIM:620103"
"DOID:0070577" "spermatogenic failure 78"@en "MIM:620170"
"DOID:0070578" "spermatogenic failure 79"@en "MIM:620196"
"DOID:0070579" "spermatogenic failure 80"@en "MIM:620222"
"DOID:0070580" "spermatogenic failure 81"@en "MIM:620277"
"DOID:0070581" "spermatogenic failure 82"@en "MIM:620353"
"DOID:0070582" "spermatogenic failure 83"@en "MIM:620354"
"DOID:0070583" "spermatogenic failure 84"@en "MIM:620409"
"DOID:0070584" "spermatogenic failure 85"@en "MIM:620490"
"DOID:0070585" "spermatogenic failure 86"@en "MIM:620499"
"DOID:0070586" "spermatogenic failure 87"@en "MIM:620500"
"DOID:0070587" "spermatogenic failure 88"@en "MIM:620547"
"DOID:0070588" "spermatogenic failure 89"@en "MIM:620705"
"DOID:0070589" "spermatogenic failure 90"@en "MIM:620744"
"DOID:0070590" "spermatogenic failure 91"@en "MIM:620838"
"DOID:0070591" "spermatogenic failure 92"@en "MIM:620848"
"DOID:0070592" "spermatogenic failure 93"@en "MIM:620849"
"DOID:0070593" "spermatogenic failure 94"@en "MIM:620850"
"DOID:0070594" "spermatogenic failure 95"@en "MIM:620917"
"DOID:0070595" "X-linked spermatogenic failure 4"@en "MIM:301077"
"DOID:0070596" "X-linked spermatogenic failure 5"@en "MIM:301099"
"DOID:0070597" "X-linked spermatogenic failure 6"@en "MIM:301101"
"DOID:0070598" "X-linked spermatogenic failure 7"@en "MIM:301106"
"DOID:0070599" "X-linked spermatogenic failure 8"@en "MIM:301119"
"DOID:0080019" "metaphyseal dysplasia"@en "MIM:215050"
"DOID:0080020" "Jansen's metaphyseal chondrodysplasia"@en "MIM:156400"
"DOID:0080021" "Schmid metaphyseal chondrodysplasia"@en "MIM:156500"
Expand Down Expand Up @@ -2204,7 +2237,7 @@ id label xrefs
"DOID:0081161" "dilated cardiomyopathy 2E"@en "MIM:619492"
"DOID:0081162" "dilated cardiomyopathy 2F"@en "MIM:619747"
"DOID:0081163" "dilated cardiomyopathy 2G"@en "MIM:619897"
"DOID:0081164" "dilated cardiomyopathy 3B"@en "MIM:302045"
"DOID:0081164" "obsolete dilated cardiomyopathy 3B"@en "MIM:302045"
"DOID:0081168" "HMG-CoA synthase 2 deficiency"@en "MIM:605911"
"DOID:0081169" "Leber congenital amaurosis 19"@en "MIM:618513"
"DOID:0081175" "short stature, hearing loss, retinitis pigmentosa, and distinctive facies"@en "MIM:617763"
Expand Down Expand Up @@ -2447,7 +2480,7 @@ id label xrefs
"DOID:0090040" "torsion dystonia 7"@en "MIM:602124"
"DOID:0090041" "torsion dystonia 4"@en "MIM:128101"
"DOID:0090042" "torsion dystonia 17"@en "MIM:612406"
"DOID:0090043" "dystonia 5"@en "MIM:128230"
"DOID:0090043" "dopa-responsive dystonia" "MIM:128230"
"DOID:0090044" "dystonia 9"@en "MIM:601042"
"DOID:0090045" "glucose transporter type 1 deficiency syndrome 2"@en "MIM:612126"
"DOID:0090046" "dystonia 21"@en "MIM:614588"
Expand Down Expand Up @@ -3112,7 +3145,6 @@ id label xrefs
"DOID:0110575" "autosomal dominant nonsyndromic deafness 5"@en "MIM:600994"
"DOID:0110576" "autosomal dominant nonsyndromic deafness 50"@en "MIM:613074"
"DOID:0110577" "autosomal dominant nonsyndromic deafness 51"@en "MIM:613558"
"DOID:0110578" "autosomal dominant nonsyndromic deafness 52"@en "MIM:607683"
"DOID:0110579" "autosomal dominant nonsyndromic deafness 53"@en "MIM:609965"
"DOID:0110580" "autosomal dominant nonsyndromic deafness 54"@en "MIM:615649"
"DOID:0110581" "autosomal dominant nonsyndromic deafness 56"@en "MIM:615629"
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"DOID:0110858" "polycystic kidney disease 1"@en "MIM:173900"
"DOID:0110859" "polycystic kidney disease 2"@en "MIM:613095"
"DOID:0110860" "polycystic kidney disease 3"@en "MIM:600666"
"DOID:0110861" "autosomal recessive polycystic kidney disease"@en "MIM:263200"
"DOID:0110862" "congenital stationary night blindness autosomal dominant 1"@en "MIM:610445"
"DOID:0110863" "congenital stationary night blindness autosomal dominant 2"@en "MIM:163500"
"DOID:0110864" "congenital stationary night blindness 1F"@en "MIM:615058"
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