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DO October 2024 release
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allenbaron committed Nov 1, 2024
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2 changes: 0 additions & 2 deletions DOreports/DO-equivalentClass.tsv
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Expand Up @@ -234,7 +234,6 @@ DOID:1325 bronchus cancer cancer and ('disease has location' some bronchus) and
DOID:13254 diverticulitis of colon diverticulitis and ('disease has location' some colon)
DOID:13271 cutaneous porphyria porphyria and ('disease has location' some 'zone of skin')
DOID:13348 laryngeal cartilage cancer cancer and ('disease has location' some 'laryngeal cartilage')
DOID:13357 chondromalacia patellae chondromalacia and ('disease has location' some patella)
DOID:13386 gastrointestinal anthrax 'anthrax disease' and ('disease has location' some 'digestive system')
DOID:13402 skin sarcoidosis sarcoidosis and ('disease has location' some 'zone of skin')
DOID:13446 basilar artery occlusion 'occlusion precerebral artery' and ('disease has location' some 'basilar artery')
Expand All @@ -258,7 +257,6 @@ DOID:13864 trochlear nerve disease disease and ('disease has location' some 'tro
DOID:1393 visual pathway disease disease and ('disease has location' some 'optic tract')
DOID:1400 lacrimal apparatus disease disease and ('disease has location' some 'lacrimal apparatus')
DOID:14006 splenic artery aneurysm 'vascular disease' and ('disease has location' some 'splenic artery')
DOID:14021 Tietze's syndrome syndrome and ('disease has location' some 'costochondral joint')
DOID:14059 paraurethral gland cancer cancer and ('disease has location' some 'paraurethral gland')
DOID:14067 Plasmodium falciparum malaria malaria and ('has material basis in' some 'Plasmodium falciparum')
DOID:14092 renal artery atheroma atherosclerosis and ('disease has location' some 'renal artery')
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29 changes: 24 additions & 5 deletions DOreports/DO-subClassOf-anonymous.tsv
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5 changes: 4 additions & 1 deletion DOreports/GARDinDO.tsv
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Expand Up @@ -176,7 +176,7 @@ id label xrefs
"DOID:0050866" "oral squamous cell carcinoma"@en "GARD:7263"
"DOID:0050873" "follicular lymphoma"@en "GARD:2356"
"DOID:0050876" "Caroli disease"@en "GARD:6002"
"DOID:0050877" "pancreatic agenesis 1"@en "GARD:4203"
"DOID:0050877" "pancreatic agenesis"@en "GARD:4203"
"DOID:0050880" "Koolen de Vries syndrome"@en "GARD:10727"
"DOID:0050882" "spinocerebellar ataxia type 5"@en "GARD:4953"
"DOID:0050883" "infantile cerebellar-retinal degeneration"@en "GARD:13264"
Expand Down Expand Up @@ -515,11 +515,14 @@ id label xrefs
"DOID:0070562" "Fanconi-Bickel syndrome"@en "GARD:2268"
"DOID:0070563" "glucose-galactose malabsorption"@en "GARD:6521"
"DOID:0070613" "familial renal glucosuria"@en "GARD:7548"
"DOID:0070615" "autoinflammation, antibody deficiency, and immune dysregulation syndrome"@en "GARD:17486"
"DOID:0080016" "spina bifida"@en "GARD:7673"
"DOID:0080021" "Schmid metaphyseal chondrodysplasia"@en "GARD:7029"
"DOID:0080028" "spondyloepimetaphyseal dysplasia, Strudwick type"@en "GARD:134"
"DOID:0080030" "spondyloepimetaphyseal dysplasia, Missouri type"@en "GARD:10618"
"DOID:0080031" "fibrous dysplasia"@en "GARD:6444"
"DOID:0080032" "craniodiaphyseal dysplasia"@en "GARD:1567"
"DOID:0080036" "SOST-related sclerosing bone dysplasia"@en "GARD:4771"
"DOID:0080037" "Worth syndrome"@en "GARD:390"
"DOID:0080038" "pycnodysostosis"@en "GARD:4611"
"DOID:0080039" "axial osteomalacia"@en "GARD:8431"
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22 changes: 18 additions & 4 deletions DOreports/HumanDO.tsv
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Expand Up @@ -2417,6 +2417,7 @@ id label subClassOf
"DOID:7188" "autoimmune thyroiditis" "autoimmune disease of endocrine system"
"DOID:0040088" "autoimmune uveitis" "autoimmune disease of eyes, ear, nose and throat"
"DOID:0040097" "autoimmune vasculitis" "autoimmune disease of cardiovascular system"
"DOID:0070615" "autoinflammation, antibody deficiency, and immune dysregulation syndrome" "primary immunodeficiency disease"
"DOID:0080321" "autonomic nervous system benign neoplasm" "peripheral nervous system benign neoplasm"
"DOID:11465" "autonomic nervous system disease" "peripheral nervous system disease"
"DOID:2621" "autonomic nervous system neoplasm" "peripheral nervous system neoplasm"
Expand Down Expand Up @@ -2519,6 +2520,8 @@ id label subClassOf
"DOID:0070037" "autosomal dominant intellectual developmental disorder 7" "autosomal dominant intellectual developmental disorder"
"DOID:0070038" "autosomal dominant intellectual developmental disorder 8" "autosomal dominant intellectual developmental disorder"
"DOID:0111150" "autosomal dominant isolated ectopia lentis 1" "isolated ectopia lentis"
"DOID:0090102" "autosomal dominant isolated macrothrombocytopenia 1" "thrombocytopenia"
"DOID:0060995" "autosomal dominant isolated macrothrombocytopenia 2" "thrombocytopenia"
"DOID:0111383" "autosomal dominant keratitis" "keratitis"
"DOID:0060871" "autosomal dominant keratitis-ichthyosis-deafness syndrome" "syndrome"
"DOID:0080755" "autosomal dominant keratosis follicularis spinulosa decalvans" "keratosis follicularis spinulosa decalvans"
Expand All @@ -2527,7 +2530,6 @@ id label subClassOf
"DOID:0110303" "autosomal dominant limb-girdle muscular dystrophy type 1H" "autosomal dominant limb-girdle muscular dystrophy"
"DOID:0110304" "autosomal dominant limb-girdle muscular dystrophy type 2" "autosomal dominant limb-girdle muscular dystrophy"
"DOID:0110306" "autosomal dominant limb-girdle muscular dystrophy type 3" "autosomal dominant limb-girdle muscular dystrophy"
"DOID:0090102" "autosomal dominant macrothrombocytopenia TUBB1-related" "thrombocytopenia"
"DOID:14725" "autosomal dominant microcephaly" "microcephaly"
"DOID:0112013" "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques" "mutilating palmoplantar keratoderma with periorificial keratotic plaques"
"DOID:0060681" "autosomal dominant nocturnal frontal lobe epilepsy" "frontal lobe epilepsy"
Expand Down Expand Up @@ -4247,6 +4249,7 @@ id label subClassOf
"DOID:0050546" "congenital adrenal insufficiency" "adrenal gland disease"
"DOID:2236" "congenital afibrinogenemia" "blood coagulation disease"
"DOID:0090118" "congenital amegakaryocytic thrombocytopenia" "thrombocytopenia"
"DOID:0061002" "congenital amegakaryocytic thrombocytopenia 2" "thrombocytopenia"
"DOID:0112359" "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" "syndrome"
"DOID:11367" "congenital aphakia" "lens disease"
"DOID:0111862" "congenital bilateral absence of vas deferens" "male infertility"
Expand Down Expand Up @@ -5985,6 +5988,8 @@ id label subClassOf
"DOID:0060363" "glycerol kinase deficiency" "inherited metabolic disorder"
"DOID:0111037" "glycine N-methyltransferase deficiency" "hypermethioninemia"
"DOID:9268" "glycine encephalopathy" "amino acid metabolic disorder"
"DOID:0070616" "glycine encephalopathy 1" "glycine encephalopathy"
"DOID:0061001" "glycine encephalopathy 2" "glycine encephalopathy"
"DOID:0050728" "glycogen metabolism disorder" "carbohydrate metabolic disorder"
"DOID:2747" "glycogen storage disease" "glycogen metabolism disorder"
"DOID:0081329" "glycogen storage disease I" "glycogen storage disease"
Expand Down Expand Up @@ -7857,6 +7862,8 @@ id label subClassOf
"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:0070619" "mitochondrial trifunctional protein deficiency 1" "mitochondrial trifunctional protein deficiency"
"DOID:0060999" "mitochondrial trifunctional protein deficiency 2" "mitochondrial trifunctional protein deficiency"
"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"
"DOID:61" "mitral valve disease" "heart valve disease"
Expand Down Expand Up @@ -8899,8 +8906,9 @@ id label subClassOf
"DOID:5742" "pancreatic acinar cell adenocarcinoma" "pancreatic adenocarcinoma"
"DOID:4074" "pancreatic adenocarcinoma" "pancreatic carcinoma"
"DOID:5637" "pancreatic adenosquamous carcinoma" "pancreatic cancer"
"DOID:0050877" "pancreatic agenesis 1" "pancreas disease"
"DOID:0060988" "pancreatic agenesis 2" "pancreas disease"
"DOID:0050877" "pancreatic agenesis" "pancreas disease"
"DOID:0061003" "pancreatic agenesis 1" "pancreatic agenesis"
"DOID:0060988" "pancreatic agenesis 2" "pancreatic agenesis"
"DOID:1793" "pancreatic cancer" "endocrine gland cancer"
"DOID:4905" "pancreatic carcinoma" "pancreatic cancer"
"DOID:6977" "pancreatic cholera" "endocrine pancreas disease"
Expand Down Expand Up @@ -9422,6 +9430,9 @@ id label subClassOf
"DOID:0060276" "pontocerebellar hypoplasia type 7" "pontocerebellar hypoplasia"
"DOID:0060277" "pontocerebellar hypoplasia type 8" "pontocerebellar hypoplasia"
"DOID:0060278" "pontocerebellar hypoplasia type 9" "pontocerebellar hypoplasia"
"DOID:0080172" "poor metabolism of thiopurines" "inherited metabolic disorder"
"DOID:0061004" "poor metabolism of thiopurines 1" "poor metabolism of thiopurines"
"DOID:0060996" "poor metabolism of thiopurines 2" "poor metabolism of thiopurines"
"DOID:0081417" "poorly differentiated chordoma" "chordoma"
"DOID:0060055" "popliteal pterygium syndrome" "syndrome"
"DOID:0060263" "porencephaly" "brain disease"
Expand Down Expand Up @@ -10131,6 +10142,9 @@ id label subClassOf
"DOID:12342" "retroperitoneum carcinoma" "retroperitoneal cancer"
"DOID:3672" "rhabdoid cancer" "childhood kidney cancer"
"DOID:5058" "rhabdoid meningioma" "meningioma"
"DOID:0070617" "rhabdoid tumor predisposition syndrome" "syndrome"
"DOID:0070618" "rhabdoid tumor predisposition syndrome 1" "rhabdoid tumor predisposition syndrome"
"DOID:0060997" "rhabdoid tumor predisposition syndrome 2" "rhabdoid tumor predisposition syndrome"
"DOID:0080992" "rhabdomyolysis-myalgia syndrome" "myopathy"
"DOID:3247" "rhabdomyosarcoma" "skeletal muscle cancer"
"DOID:14172" "rheumatic congestive heart failure" "congestive heart failure"
Expand Down Expand Up @@ -10843,6 +10857,7 @@ id label subClassOf
"DOID:11574" "streptococcal meningitis" "bacterial meningitis"
"DOID:2838" "stress polycythemia" "acquired polycythemia"
"DOID:0070352" "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures" "neurodegenerative disease"
"DOID:0060998" "striatal degeneration 2" "multiple system atrophy"
"DOID:0050924" "striated muscle rhabdoid tumor" "muscle cancer"
"DOID:4751" "striatonigral degeneration" "multiple system atrophy"
"DOID:9407" "strictly posterior acute myocardial infarction" "acute myocardial infarction"
Expand Down Expand Up @@ -11091,7 +11106,6 @@ id label subClassOf
"DOID:0070313" "thiamine deficiency disease" "nutritional deficiency disease"
"DOID:0090117" "thiamine-responsive megaloblastic anemia syndrome" "syndrome"
"DOID:0040018" "thiopental allergy" "drug allergy"
"DOID:0080172" "thiopurine S-methyltransferase deficiency" "inherited metabolic disorder"
"DOID:562" "third cranial nerve disease" "cranial nerve disease"
"DOID:0050823" "third-degree atrioventricular block" "atrioventricular block"
"DOID:14004" "thoracic aortic aneurysm" "aortic aneurysm"
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2 changes: 1 addition & 1 deletion DOreports/ICD10inDO.tsv
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Expand Up @@ -539,7 +539,7 @@ id label xrefs
"DOID:0090094" "hypogonadotropic hypogonadism 1 with or without anosmia"@en "ICD10CM:E23.0"
"DOID:0090100" "ocular albinism with sensorineural deafness"@en "ICD10CM:E70.3"
"DOID:0090101" "lethal congenital glycogen storage disease of heart"@en "ICD10CM:G73.6*, ICD10CM:E74.0+"
"DOID:0090102" "autosomal dominant macrothrombocytopenia TUBB1-related"@en "ICD10CM:D69.4"
"DOID:0090102" "autosomal dominant isolated macrothrombocytopenia 1"@en "ICD10CM:D69.4"
"DOID:0090103" "Huntington's disease-like 1"@en "ICD10CM:G10"
"DOID:0090104" "Huntington's disease-like 2"@en "ICD10CM:G10"
"DOID:0090105" "autosomal recessive hypercholesterolemia"@en "ICD10CM:E78.0"
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2 changes: 1 addition & 1 deletion DOreports/MESHinDO.tsv
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Expand Up @@ -626,7 +626,7 @@ id label xrefs
"DOID:0080161" "cutaneous candidiasis"@en "MESH:D002179"
"DOID:0080162" "lupus nephritis"@en "MESH:D008181"
"DOID:0080169" "tricuspid atresia"@en "MESH:D018785"
"DOID:0080172" "thiopurine S-methyltransferase deficiency"@en "MESH:C536512"
"DOID:0080172" "poor metabolism of thiopurines"@en "MESH:C536512"
"DOID:0080174" "bladder exstrophy"@en "MESH:D001746"
"DOID:0080176" "meningococcal meningitis"@en "MESH:D008585"
"DOID:0080177" "hepatic veno-occlusive disease"@en "MESH:D006504"
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2 changes: 2 additions & 0 deletions DOreports/NCIinDO.tsv
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Expand Up @@ -102,6 +102,7 @@ id label xrefs
"DOID:0060058" "lymphoma"@en "NCI:C7065, NCI:C3208"
"DOID:0060060" "non-Hodgkin lymphoma"@en "NCI:C3211"
"DOID:0060061" "primary cutaneous T-cell non-Hodgkin lymphoma"@en "NCI:C3467"
"DOID:0060085" "organ system benign neoplasm"@en "NCI:C3677"
"DOID:0060103" "central nervous system embryonal tumor"@en "NCI:C5398"
"DOID:0060119" "pharynx cancer"@en "NCI:C3325"
"DOID:0060123" "connective tissue benign neoplasm"@en "NCI:C3377"
Expand Down Expand Up @@ -239,6 +240,7 @@ id label xrefs
"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:0070617" "rhabdoid tumor predisposition syndrome"@en "NCI:C93268"
"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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26 changes: 20 additions & 6 deletions DOreports/OMIMinDO.tsv
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Expand Up @@ -224,7 +224,7 @@ id label xrefs
"DOID:0050857" "Perrault syndrome"@en "MIM:615300, MIM:PS233400, MIM:233400, MIM:614926, MIM:614129"
"DOID:0050858" "Marshall-Smith syndrome"@en "MIM:602535"
"DOID:0050873" "follicular lymphoma"@en "MIM:151430"
"DOID:0050877" "pancreatic agenesis 1"@en "MIM:260370"
"DOID:0050877" "pancreatic agenesis"@en "MIM:PS260370"
"DOID:0050879" "fragile X-associated tremor/ataxia syndrome"@en "MIM:300623"
"DOID:0050880" "Koolen de Vries syndrome"@en "MIM:610443"
"DOID:0050881" "inclusion body myopathy with Paget disease of bone and frontotemporal dementia"@en "MIM:PS167320"
Expand Down Expand Up @@ -934,6 +934,15 @@ id label xrefs
"DOID:0060992" "bent bone dysplasia syndrome 1"@en "MIM:614592"
"DOID:0060993" "bent bone dysplasia syndrome 2"@en "MIM:620076"
"DOID:0060994" "encephalopathy due to defective mitochondrial and peroxisomal fission 2"@en "MIM:617086"
"DOID:0060995" "autosomal dominant isolated macrothrombocytopenia 2"@en "MIM:619840"
"DOID:0060996" "poor metabolism of thiopurines 2"@en "MIM:616903"
"DOID:0060997" "rhabdoid tumor predisposition syndrome 2"@en "MIM:613325"
"DOID:0060998" "striatal degeneration 2"@en "MIM:616922"
"DOID:0060999" "mitochondrial trifunctional protein deficiency 2"@en "MIM:620300"
"DOID:0061001" "glycine encephalopathy 2"@en "MIM:620398"
"DOID:0061002" "congenital amegakaryocytic thrombocytopenia 2"@en "MIM:620481"
"DOID:0061003" "pancreatic agenesis 1"@en "MIM:260370"
"DOID:0061004" "poor metabolism of thiopurines 1"@en "MIM:610460"
"DOID:0070000" "3-methylglutaconic aciduria type 8"@en "MIM:617248"
"DOID:0070002" "3-methylglutaconic aciduria type 9"@en "MIM:617698"
"DOID:0070005" "Seckel syndrome 9"@en "MIM:616777"
Expand Down Expand Up @@ -1484,6 +1493,11 @@ id label xrefs
"DOID:0070611" "autosomal dominant nonsyndromic deafness 88"@en "MIM:620283"
"DOID:0070612" "autosomal dominant nonsyndromic deafness 89"@en "MIM:620284"
"DOID:0070613" "familial renal glucosuria"@en "MIM:233100"
"DOID:0070615" "autoinflammation, antibody deficiency, and immune dysregulation syndrome"@en "MIM:614878"
"DOID:0070616" "glycine encephalopathy 1"@en "MIM:605899"
"DOID:0070617" "rhabdoid tumor predisposition syndrome"@en "MIM:PS609322"
"DOID:0070618" "rhabdoid tumor predisposition syndrome 1"@en "MIM:609322"
"DOID:0070619" "mitochondrial trifunctional protein deficiency 1"@en "MIM:609015"
"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 @@ -1598,7 +1612,7 @@ id label xrefs
"DOID:0080169" "tricuspid atresia"@en "MIM:605067"
"DOID:0080170" "normophosphatemic familial tumoral calcinosis"@en "MIM:610455"
"DOID:0080171" "esophageal atresia/tracheoesophageal fistula"@en "MIM:189960"
"DOID:0080172" "thiopurine S-methyltransferase deficiency"@en "MIM:610460"
"DOID:0080172" "poor metabolism of thiopurines"@en "MIM:PS610460"
"DOID:0080173" "bladder exstrophy-epispadias-cloacal exstrophy complex"@en "MIM:258040"
"DOID:0080174" "bladder exstrophy"@en "MIM:600057"
"DOID:0080175" "cloacal exstrophy"@en "MIM:258040"
Expand Down Expand Up @@ -2557,7 +2571,7 @@ id label xrefs
"DOID:0090093" "hypogonadotropic hypogonadism 21 with or without anosmia"@en "MIM:615271"
"DOID:0090094" "hypogonadotropic hypogonadism 1 with or without anosmia"@en "MIM:308700"
"DOID:0090101" "lethal congenital glycogen storage disease of heart"@en "MIM:261740"
"DOID:0090102" "autosomal dominant macrothrombocytopenia TUBB1-related"@en "MIM:613112"
"DOID:0090102" "autosomal dominant isolated macrothrombocytopenia 1"@en "MIM:613112"
"DOID:0090103" "Huntington's disease-like 1"@en "MIM:603218"
"DOID:0090104" "Huntington's disease-like 2"@en "MIM:606438"
"DOID:0090105" "autosomal recessive hypercholesterolemia"@en "MIM:603813"
Expand Down Expand Up @@ -3813,7 +3827,7 @@ id label xrefs
"DOID:0111274" "CODAS syndrome"@en "MIM:600373"
"DOID:0111275" "speech-language disorder-1"@en "MIM:602081"
"DOID:0111276" "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"@en "MIM:607459"
"DOID:0111277" "mitochondrial trifunctional protein deficiency"@en "MIM:609015"
"DOID:0111277" "mitochondrial trifunctional protein deficiency"@en "MIM:PS609015"
"DOID:0111278" "histiocytosis-lymphadenopathy plus syndrome"@en "MIM:602782"
"DOID:0111279" "psoriasis 7"@en "MIM:605606"
"DOID:0111280" "psoriasis 4"@en "MIM:603935"
Expand Down Expand Up @@ -5115,6 +5129,7 @@ id label xrefs
"DOID:14679" "VACTERL association"@en "MIM:192350, MIM:276950"
"DOID:14681" "Silver-Russell syndrome"@en "MIM:180860"
"DOID:14683" "Binder syndrome"@en "MIM:155050"
"DOID:14686" "Axenfeld-Rieger syndrome"@en "MIM:PS180500"
"DOID:14687" "diastrophic dysplasia"@en "MIM:222600"
"DOID:14692" "Smith-Lemli-Opitz syndrome"@en "MIM:270400"
"DOID:14693" "Clouston syndrome"@en "MIM:129500"
Expand Down Expand Up @@ -5189,7 +5204,6 @@ id label xrefs
"DOID:2065" "syringoma"@en "MIM:186600"
"DOID:2120" "focal dermal hypoplasia"@en "MIM:305600"
"DOID:2121" "ectodermal dysplasia"@en "MIM:PS305100"
"DOID:2129" "atypical teratoid rhabdoid tumor"@en "MIM:609322"
"DOID:2154" "nephroblastoma"@en "MIM:194070"
"DOID:2156" "ovarian germ cell cancer"@en "MIM:603737"
"DOID:2187" "amelogenesis imperfecta"@en "MIM:PS104500"
Expand Down Expand Up @@ -5503,7 +5517,7 @@ id label xrefs
"DOID:9261" "nasopharynx carcinoma"@en "MIM:607107, MIM:161550"
"DOID:9263" "homocystinuria"@en "MIM:236250, MIM:236200"
"DOID:9266" "cystinuria"@en "MIM:220100"
"DOID:9268" "glycine encephalopathy"@en "MIM:605899"
"DOID:9268" "glycine encephalopathy"@en "MIM:PS605899"
"DOID:9269" "maple syrup urine disease"@en "MIM:246900, MIM:615135, MIM:248600"
"DOID:9270" "alkaptonuria"@en "MIM:203500"
"DOID:9271" "ornithine carbamoyltransferase deficiency"@en "MIM:311250"
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