# do_term

doid: DOID:0090013
term:
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive


doid: DOID:0090014
term:
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive


doid: DOID:0111384
term:
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2


doid: DOID:0111385
term:
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1


doid: DOID:0111386
term:
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3


doid: DOID:0112290
term:
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis


doid: DOID:0112294
term:
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability


doid: DOID:0112359
term:
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


# do_synonym

doid: DOID:0050553
synonym:
"JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY" EXACT []


doid: DOID:0050885
synonym:
"intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT []


doid: DOID:0060356
synonym:
"immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT []


doid: DOID:0060462
synonym:
"micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT []


doid: DOID:0060485
synonym:
"microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT []


doid: DOID:0060742
synonym:
"methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT []


doid: DOID:0060743
synonym:
"methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT []


doid: DOID:0060800
synonym:
"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT []


doid: DOID:0060800
synonym:
"X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT []


doid: DOID:0060801
synonym:
"mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT []


doid: DOID:0060801
synonym:
"X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT []


doid: DOID:0060825
synonym:
"X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT []


doid: DOID:0060880
synonym:
"familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT []


doid: DOID:0060881
synonym:
"familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT []


doid: DOID:0070039
synonym:
"neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" EXACT []


doid: DOID:0070054
synonym:
"intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" EXACT []


doid: DOID:0070062
synonym:
"autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT []


doid: DOID:0070215
synonym:
"hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT []


doid: DOID:0070223
synonym:
"progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT []


doid: DOID:0070277
synonym:
"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT []


doid: DOID:0080127
synonym:
"RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT []


doid: DOID:0080164
synonym:
"Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT []


doid: DOID:0080164
synonym:
"Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT []


doid: DOID:0080317
synonym:
"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT []


doid: DOID:0080415
synonym:
"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT []


doid: DOID:0080575
synonym:
"multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT []


doid: DOID:0090006
synonym:
"congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT []


doid: DOID:0090111
synonym:
"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease" EXACT []


doid: DOID:0090111
synonym:
"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT []


doid: DOID:0090112
synonym:
"progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT []


doid: DOID:0090117
synonym:
"thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT []


doid: DOID:0090117
synonym:
"thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT []


doid: DOID:0090125
synonym:
"autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT []


doid: DOID:0090125
synonym:
"COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT []


doid: DOID:0090144
synonym:
"diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT []


doid: DOID:0110056
synonym:
"autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT []


doid: DOID:0110122
synonym:
"Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT []


doid: DOID:0110148
synonym:
"autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT []


doid: DOID:0110152
synonym:
"autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT []


doid: DOID:0110190
synonym:
"autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT []


doid: DOID:0110191
synonym:
"autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT []


doid: DOID:0110635
synonym:
"muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT []


doid: DOID:0110635
synonym:
"muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT []


doid: DOID:0110637
synonym:
"muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" EXACT []


doid: DOID:0110852
synonym:
"Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT []


doid: DOID:0110968
synonym:
"brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT []


doid: DOID:0111035
synonym:
"autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT []


doid: DOID:0111036
synonym:
"autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT []


doid: DOID:0111068
synonym:
"intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT []


doid: DOID:0111155
synonym:
"acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT []


doid: DOID:0111163
synonym:
"combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT []


doid: DOID:0111164
synonym:
"combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT []


doid: DOID:0111166
synonym:
"combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT []


doid: DOID:0111249
synonym:
"coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT []


doid: DOID:0111249
synonym:
"ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT []


doid: DOID:0111278
synonym:
"cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" EXACT []


doid: DOID:0111278
synonym:
"histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness" EXACT []


doid: DOID:0111340
synonym:
"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT []


doid: DOID:0111360
synonym:
"hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT []


doid: DOID:0111420
synonym:
"familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency" EXACT []


doid: DOID:0111454
synonym:
"short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" EXACT []


doid: DOID:0111455
synonym:
"growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT []


doid: DOID:0111455
synonym:
"growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT []


doid: DOID:0111455
synonym:
"growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT []


doid: DOID:0111488
synonym:
"lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" EXACT []


doid: DOID:0111567
synonym:
"retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" EXACT []


doid: DOID:0111576
synonym:
"dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT []


doid: DOID:0111580
synonym:
"optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT []


doid: DOID:0111589
synonym:
"cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT []


doid: DOID:0111613
synonym:
"autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" EXACT []


doid: DOID:0111621
synonym:
"craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" EXACT []


doid: DOID:0111688
synonym:
"cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT []


doid: DOID:0111710
synonym:
"autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT []


doid: DOID:0111738
synonym:
"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" EXACT []


doid: DOID:0111780
synonym:
"talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT []


doid: DOID:0111800
synonym:
"microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects" EXACT []


doid: DOID:0111805
synonym:
"anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" EXACT []


doid: DOID:0111811
synonym:
"colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT []


doid: DOID:0111811
synonym:
"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT []


doid: DOID:0111877
synonym:
"aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT []


doid: DOID:0111898
synonym:
"X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT []


doid: DOID:0111903
synonym:
"hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" EXACT []


doid: DOID:0111936
synonym:
"senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT []


doid: DOID:0111937
synonym:
"severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT []


doid: DOID:0111940
synonym:
"autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT []


doid: DOID:0111941
synonym:
"autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" EXACT []


doid: DOID:0111941
synonym:
"autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT []


doid: DOID:0111945
synonym:
"Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT []


doid: DOID:0111947
synonym:
"combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT []


doid: DOID:0111950
synonym:
"Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT []


doid: DOID:0111952
synonym:
"immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT []


doid: DOID:0111955
synonym:
"autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT []


doid: DOID:0111955
synonym:
"autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT []


doid: DOID:0111956
synonym:
"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT []


doid: DOID:0111956
synonym:
"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT []


doid: DOID:0111979
synonym:
"SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT []


doid: DOID:0111979
synonym:
"severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT []


doid: DOID:0111986
synonym:
"Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT []


doid: DOID:0111995
synonym:
"Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT []


doid: DOID:0112025
synonym:
"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT []


doid: DOID:0112042
synonym:
"intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT []


doid: DOID:0112135
synonym:
"autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT []


doid: DOID:0112136
synonym:
"severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT []


doid: DOID:0112152
synonym:
"coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT []


doid: DOID:0112212
synonym:
"developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination" EXACT []


doid: DOID:0112228
synonym:
"posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT []


doid: DOID:0112248
synonym:
"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT []


doid: DOID:0112255
synonym:
"homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type" EXACT []


doid: DOID:0112256
synonym:
"homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT []


doid: DOID:0112259
synonym:
"46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT []


doid: DOID:0112259
synonym:
"46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT []


doid: DOID:0112260
synonym:
"46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT []


doid: DOID:0112264
synonym:
"hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" EXACT []


doid: DOID:0112264
synonym:
"progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia" EXACT []


doid: DOID:0112306
synonym:
"nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT []


doid: DOID:10808
synonym:
"acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []


doid: DOID:10927
synonym:
"acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []


doid: DOID:10927
synonym:
"acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []


doid: DOID:10927
synonym:
"chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []


doid: DOID:10927
synonym:
"chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []


doid: DOID:13945
synonym:
"cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT []


doid: DOID:2673
synonym:
"multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour" EXACT []


doid: DOID:4797
synonym:
"systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT []


doid: DOID:6419
synonym:
"Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT []


doid: DOID:7553
synonym:
"Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements" EXACT []


doid: DOID:7553
synonym:
"Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements" EXACT []


doid: DOID:9267
synonym:
"disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT []


