Autosomal recessive hereditary disorder

Code	`85995004`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

7829180022-aminoadipic 2-oxoadipic aciduria disorder

13067510042-methylbutyryl-coenzyme A dehydrogenase deficiency disease disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

2380330073-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency disorder

7023420073-M syndrome disorder

2379510083-Methylglutaconic aciduria type 1 disorder

2972320093-Methylglutaconic aciduria type 3 disorder

2972330043-Methylglutaconic aciduria type 4 disorder

575140003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency disorder

7252860023-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency disorder

7114120043-methylglutaconic aciduria type 5 disorder

7648600063-methylglutaconic aciduria type 7 disorder

12226720023-methylglutaconic aciduria type 9 disorder

7336370013-phosphoglycerate dehydrogenase deficiency infantile form disorder

7336360053-phosphoglycerate dehydrogenase deficiency juvenile form disorder

73362100746,XX disorder of sex development with skeletal anomalies syndrome disorder

123734500246,XX ovarian dysgenesis, short stature syndrome disorder

123128100946,XY disorder of sex development due to isolated 17,20-lyase deficiency disorder

78309100346,XY gonadal dysgenesis, motor and sensory neuropathy syndrome disorder

12089330004H leucodystrophy disorder

417970075,10-Methylenetetrahydrofolate reductase deficiency disorder

261320025-Oxoprolinase deficiency disorder

7252890095-amino-4-imidazole carboxamide ribosiduria disorder

7647030027p22.1 microduplication syndrome disorder

720941007ALG1 congenital disorder of glycosylation disorder

711155008ALG12-congenital disorder of glycosylation disorder

720976009ALG3 congenital disorder of glycosylation disorder

720977000ALG8 congenital disorder of glycosylation disorder

720978005ALG9 congenital disorder of glycosylation disorder

1332385000AMeD syndrome disorder

787175002ANK3-related intellectual disability, sleep disturbance syndrome disorder

789657008ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis disorder

190787008Abetalipoproteinaemia disorder

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

733068001Absent tibia, polydactyly, arachnoid cyst syndrome disorder

718715007Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome disorder

718573009Achalasia microcephaly syndrome disorder

56852002Achromatopsia disorder

57863006Acid phosphatase deficiency disorder

722280000Ackerman syndrome disorder

720410001Acro-oto-ocular syndrome disorder

715951007Acrocallosal syndrome disorder

720416007Acrocapitofemoral dysplasia disorder

890221004Acrocardiofacial syndrome disorder

720417003Acrocephalopolydactyly disorder

403767009Acrocephalopolysyndactyly type II disorder

720418008Acrocraniofacial dysostosis disorder

720427009Acrofacial dysostosis Kennedy Teebi type disorder

720430002Acrofacial dysostosis Rodriguez type disorder

720408003Acrofrontofacionasal dysostosis disorder

721835008Acrofrontofacionasal dysostosis type 2 disorder

389167007Acromesomelic dysplasia Hunter-Thompson type disorder

718559000Acromesomelic dysplasia Maroteaux type disorder

720414005Acrorenal mandibular syndrome disorder

764453009Action myoclonus renal failure syndrome disorder

720461006Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein disorder

774207004Acute infantile liver failure with multisystemic involvement syndrome disorder

1187643003Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome disorder

1340040004Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate disorder

725046003Acyl-CoA dehydrogenase 9 deficiency disorder

238069004Acyl-CoA oxidase deficiency disorder

720463009Adducted thumbs and arthrogryposis syndrome Christian type disorder

15285008Adenylosuccinate lyase deficiency disorder

1172694007Adenylosuccinate synthetase-like 1-related distal myopathy disorder

721099001Adult polyglucosan body disease disorder

785302009Adult-onset autosomal recessive cerebellar ataxia disorder

720465002Adult-onset autosomal recessive sideroblastic anaemia disorder

720466001Adult-onset dystonia parkinsonism disorder

733599009Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

1187046005Aicardi Goutieres syndrome type 2 disorder

1187047001Aicardi Goutieres syndrome type 3 disorder

1187048006Aicardi Goutieres syndrome type 4 disorder

1187049003Aicardi Goutieres syndrome type 5 disorder

55819001Albinotic fundus disorder

1237515001Alkaline ceramidase 3 deficiency disorder

1351836007Alkuraya Kucinskas syndrome disorder

720979002Alopecia, contracture, dwarfism, intellectual disability syndrome disorder

788417006Alopecia, epilepsy, intellectual disability syndrome Moynahan type disorder

239050000Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

30188007Alpha-1-antitrypsin deficiency disorder

238048001Alpha-N-acetylgalactosaminidase deficiency disorder

700463002Alpha-methylacyl-CoA racemase deficiency disorder disorder

717767009Alport syndrome autosomal recessive disorder

63702009Alstrom syndrome disorder

720983002Amaurosis hypertrichosis syndrome disorder

109478007Amelocerebrohypohidrotic syndrome disorder

234964000Amelogenesis imperfecta - recessive - rough disorder

707607008Amelogenesis imperfecta and gingival hyperplasia syndrome disorder

109474009Amelogenesis imperfecta, pigmented hypomaturation type disorder

67845009Aminomethyltransferase deficiency disorder

702437000Amish lethal microcephaly disorder

1197155007Amish nemaline myopathy disorder

63135006Amyotonia congenita disorder

702439002Andermann syndrome disorder

733116005Aniridia, renal agenesis, psychomotor retardation syndrome disorder

720494009Anonychia with microcephaly syndrome disorder

720495005Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome disorder

720496006Anophthalmia plus syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

62964007Antley-Bixler syndrome disorder

733118006Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome disorder

773583007Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome disorder

720500008Aplasia cutis congenita with intestinal lymphangiectasia syndrome disorder

720499004Aplasia cutis with myopia syndrome disorder

23501004Arginase deficiency disorder

702440000Arginine:glycine amidinotransferase deficiency disorder

41013004Argininosuccinate lyase deficiency disorder

1359952006Aromatic L-amino acid decarboxylase deficiency disorder disorder

458432002Arterial tortuosity syndrome disorder

786039009Arthrogryposis and ectodermal dysplasia syndrome disorder

54954004Aspartylglucosaminuria disorder

702442008Ataxia with vitamin E deficiency disorder

68504005Ataxia-telangiectasia syndrome disorder

178456000Ateliotic dwarfism without insulinopenia disorder

254055004Atelosteogenesis type 2 disorder

720518006Athabaskan brainstem dysgenesis syndrome disorder

720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder

763066009Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome disorder

2736005Atrophoderma vermiculatum disorder

720520009Attenuated Chédiak-Higashi syndrome disorder

1296731001Atypical Krabbe disease due to saposin A deficiency disorder

783059004Atypical dentin dysplasia due to SMOC2 deficiency disorder

1186856001Atypical pantothenate kinase associated neurodegeneration disorder

1222649004Auditory neuropathy, optic atrophy syndrome disorder

771448004Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency disorder

733623005Autism spectrum disorder, epilepsy, arthrogryposis syndrome disorder

1222681008Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome disorder

722290008Autoimmune lymphoproliferative syndrome with recurrent viral infection disorder

829973009Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder

1156852009Autosomal recessive Charcot-Marie-Tooth disease type 2 disorder

1354649003Autosomal recessive DNA repair defect due to LIG1 deficiency disorder

1354597009Autosomal recessive DNA repair defect due to POLE2 deficiency disorder

1156848009Autosomal recessive Emery-Dreifuss muscular dystrophy disorder

890237005Autosomal recessive Robinow syndrome disorder

362993009Autosomal recessive SCID (severe combined immunodeficiency disease) disorder

1297036006Autosomal recessive agammaglobulinaemia disorder

1351648007Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency disorder

726735000Autosomal recessive amelia disorder

1197524007Autosomal recessive amyotrophic lateral sclerosis type 1 disorder

17192009Autosomal recessive asexual dwarfism disorder

725394006Autosomal recessive ataxia due to ubiquinone deficiency disorder

1187619001Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect disorder

711406009Autosomal recessive axonal neuropathy with neuromyotonia disorder

723828008Autosomal recessive bestrophinopathy disorder

1156823006Autosomal recessive bilateral optic atrophy disorder

783789002Autosomal recessive brachyolmia disorder

1201862006Autosomal recessive central core disease disorder

725433003Autosomal recessive cerebellar ataxia Beauce type disorder

1237625002Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency disorder

782719004Autosomal recessive cerebellar ataxia due to STUB1 deficiency disorder

763348005Autosomal recessive cerebellar ataxia with late-onset spasticity disorder

715366004Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 disorder

725408001Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 disorder

766814006Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome disorder

782721009Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency disorder

773498006Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency disorder

770898002Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency disorder

783060009Autosomal recessive cerebellar ataxia, psychomotor delay syndrome disorder

763312008Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome disorder

715369006Autosomal recessive cerebelloparenchymal disorder type 3 disorder

776087007Autosomal recessive cerebral atrophy disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

1351778007Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect disorder

1351781002Autosomal recessive combined immunodeficiency due to BCL10 mutation disorder

1351727000Autosomal recessive combined immunodeficiency due to CD28 mutation disorder

1351800009Autosomal recessive combined immunodeficiency due to CHUK mutation disorder

1351652007Autosomal recessive combined immunodeficiency due to COPG1 deficiency disorder

1351236000Autosomal recessive combined immunodeficiency due to ICOS deficiency disorder

1351245004Autosomal recessive combined immunodeficiency due to ICOSLG deficiency disorder

1351327002Autosomal recessive combined immunodeficiency due to IL6R deficiency disorder

1351802001Autosomal recessive combined immunodeficiency due to ITPKB mutation disorder

1351946008Autosomal recessive combined immunodeficiency due to MAN2B2 mutation disorder

1351341006Autosomal recessive combined immunodeficiency due to MCM10 deficiency disorder

1351804000Autosomal recessive combined immunodeficiency due to PAX1 mutation disorder

1351332001Autosomal recessive combined immunodeficiency due to POLD1 mutation disorder

1351333006Autosomal recessive combined immunodeficiency due to POLD2 mutation disorder

1351780001Autosomal recessive combined immunodeficiency due to REL mutation disorder

1351650004Autosomal recessive combined immunodeficiency due to RELB mutation disorder

1351776006Autosomal recessive combined immunodeficiency due to WIP deficiency disorder

1351328007Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency disorder

1351329004Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency disorder

1354472008Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation disorder

1352023006Autosomal recessive combined variable immunodeficiency due to BAFF receptor deficiency disorder

1354483004Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation disorder

1351960005Autosomal recessive common variable immunodeficiency due to CD20 mutation disorder

1351961009Autosomal recessive common variable immunodeficiency due to CD21 mutation disorder

1351267003Autosomal recessive common variable immunodeficiency due to CD81 deficiency disorder

1354596000Autosomal recessive common variable immunodeficiency due to POU2AF1 mutation disorder

1356782005Autosomal recessive common variable immunodeficiency due to RAC2 deficiency disorder

1208414002Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder

1202025005Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation disorder

1208417009Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation disorder

767497003Autosomal recessive congenital methaemoglobinaemia disorder

1156850001Autosomal recessive distal hereditary motor neuropathy disorder

715487005Autosomal recessive distal osteolysis syndrome disorder

1197358003Autosomal recessive dysgenesis of anterior segment of eye disorder

707272006Autosomal recessive dyskeratosis congenita disorder

1156849001Autosomal recessive epidermolysis bullosa simplex disorder

1269235004Autosomal recessive extra-oral halitosis disorder

725434009Autosomal recessive facio-digito-genital syndrome disorder

1156822001Autosomal recessive familial Parkinson disease disorder

403795009Autosomal recessive familial woolly hair disorder

773394007Autosomal recessive frontotemporal pachygyria disorder

1296915003Autosomal recessive hereditary arginine vasopressin deficiency disorder

1187279003Autosomal recessive hereditary spastic paraplegia disorder

1342372000Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency disorder

403836001Autosomal recessive hyperimmunoglobulin M syndrome disorder

783768006Autosomal recessive hyperinsulinism due to Kir6.2 deficiency disorder

783767001Autosomal recessive hyperinsulinism due to SUR1 deficiency disorder

27025001Autosomal recessive hypohidrotic ectodermal dysplasia syndrome disorder

237891005Autosomal recessive hypophosphataemic bone disease disorder

402772005Autosomal recessive ichthyosis disorder

230320008Autosomal recessive idiopathic familial dystonia disorder

771445001Autosomal recessive infantile hypercalcaemia disorder

770901001Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome disorder

773308001Autosomal recessive intermediate Charcot-Marie-Tooth disease type A disorder

773330000Autosomal recessive intermediate Charcot-Marie-Tooth disease type B disorder

773414009Autosomal recessive intermediate Charcot-Marie-Tooth disease type C disorder

1187567002Autosomal recessive intermediate Charcot-Marie-Tooth disease type D disorder

1197151003Autosomal recessive isolated optic atrophy disorder

1222704008Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy disorder

771302009Autosomal recessive lower motor neuron disease with childhood onset disorder

771309000Autosomal recessive lymphoproliferative disease disorder

1371054008Autosomal recessive mendelian susceptibility to mycobacterial disease due to IL23R deficiency disorder

1172892009Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation disorder

1279842008Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency disorder

725431001Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency disorder

725432008Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency disorder

240073000Autosomal recessive muscular dystrophy not predominantly limb girdle disorder

240054004Autosomal recessive muscular dystrophy with limb girdle distribution disorder

764812008Autosomal recessive myogenic arthrogryposis multiplex congenita disorder

782878007Autosomal recessive nail dysplasia disorder

78921008Autosomal recessive ocular albinism disorder

725166005Autosomal recessive omodysplasia disorder

838345001Autosomal recessive optic atrophy type 6 disorder

783065004Autosomal recessive optic atrophy type 7 disorder

719104003Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome disorder

722376008Autosomal recessive popliteal pterygium syndrome disorder

1370960004Autosomal recessive predisposition to severe viral infection due to TLR3 deficiency disorder

1371049004Autosomal recessive predisposition to severe viral infection due to UNC93B1 deficiency disorder

1197366007Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity disorder

715981004Autosomal recessive primary microcephaly disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

403812000Autosomal recessive pseudoxanthoma elasticum disorder

232053004Autosomal recessive retinitis pigmentosa disorder

783766005Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene disorder

783201001Autosomal recessive severe congenital neutropenia due to CSF3R deficiency disorder

783200000Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency disorder

783058007Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency disorder

783199003Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency disorder

1156821008Autosomal recessive sick sinus syndrome disorder

717050005Autosomal recessive sideroblastic anaemia disorder

702445005Autosomal recessive spastic ataxia of Charlevoix-Saguenay disorder

784343003Autosomal recessive spastic ataxia with leucoencephalopathy disorder

784347002Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome disorder

1204415006Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome disorder

782782004Autosomal recessive spondylometaphyseal dysplasia Megarbane type disorder

1296909003Autosomal recessive vasopressin resistance disorder

771301002Axial spondylometaphyseal dysplasia disorder

1251499005B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome disorder

717940006BNAR syndrome disorder

77608001Baller-Gerold syndrome disorder

722375007Bamforth Lazarus syndrome disorder

5619004Bardet-Biedl syndrome disorder

707742001Bartter syndrome disorder

1187644009Basel Vanagaite Smirin Yosef syndrome disorder

717859007Beemer Ertbruggen syndrome disorder

718221007Behr syndrome disorder

770787005Benign Samaritan congenital myopathy disorder

1156300000Benign ethnic neutropenia disorder

838305005Benign intrahepatic cholestasis type 1 disorder

238047006Beta-D-mannosidosis disorder

21529005Beta-aminoisobutyric aciduria disorder

784373007Beta-mercaptolactate cysteine disulfiduria disorder

312927001Bietti's crystalline retinopathy disorder

890286007Bilateral frontoparietal polymicrogyria disorder

717909004Bilateral microtia with deafness and cleft palate syndrome disorder

703522009Biotin-thiamine-responsive basal ganglia disease disorder

725105006Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency disorder

778009001Blepharophimosis, intellectual disability syndrome, Verloes type disorder

717914000Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome disorder

389237009Blomstrand dysplasia disorder

732249002Bone dysplasia lethal Holmgren type disorder

720567008Bosley Salih Alorainy syndrome disorder

715647007Bothnia retinal dystrophy disorder

715984007Boucher Neuhäuser syndrome disorder

711153001Bowen-Conradi syndrome disorder

389168002Brachydactyly syndrome type B disorder

782914000Brachydactyly, short stature, retinitis pigmentosa syndrome disorder

389165004Brachyolmia - Maroteaux type disorder

720575002Braddock syndrome disorder

711163009Bradyopsia disorder

720576001Brain calcification Rajab type disorder

717942003Brain dopamine-serotonin vesicular transport disease disorder

732961003Branchial dysplasia, intellectual disability, inguinal hernia syndrome disorder

719096006Brittle cornea syndrome disorder

703530005Brody myopathy disorder

699866005Brown-Vialetto-Van Laere syndrome disorder

1172595004C11ORF73-related autosomal recessive hypomyelinating leucodystrophy disorder

1237417007CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation disorder

726031001CAMOS syndrome disorder

1187174002CCDC115 congenital disorder of glycosylation disorder

1186720006CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome disorder

1197749008CIDEC-related familial partial lipodystrophy disorder

768663003CLCN2-related leucoencephalopathy disorder

1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder

717772000CODAS syndrome disorder

718750004COG1 congenital disorder of glycosylation disorder

1197753005COG2-related congenital disorder of glycosylation disorder

718751000COG4 congenital disorder of glycosylation disorder

721100009COG5 congenital disorder of glycosylation disorder

1220574003COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation disorder

717773005COG7 congenital disorder of glycosylation disorder

717774004COG8 congenital disorder of glycosylation disorder

720599002Campomelia Cumming type disorder

720602007Camptodactyly syndrome Guadalajara type 1 disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

720600004Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome disorder

771187008Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome disorder

765329008Carbamoyl-phosphate synthetase 1 deficiency disorder

718712005Carbohydrate deficient glycoprotein syndrome type 1m disorder

725044000Carbohydrate deficient glycoprotein syndrome type 1o disorder

724142005Carbohydrate deficient glycoprotein syndrome type 2a disorder

725587007Carbohydrate deficient glycoprotein syndrome type 2d disorder

732252005Carbohydrate deficient glycoprotein syndrome type 2k disorder

733450008Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency disorder

720609003Cardiomyopathy with cataract and hip spine disease syndrome disorder

1373509009Carnosinase deficiency disorder disorder

1237346001Caroli syndrome disorder

726704006Cataract, congenital heart disease, neural tube defect syndrome disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

722383001Catel Manzke syndrome disorder

720633009Cenani Lenz syndrome disorder

726669007Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome disorder

717332007Cerebellar ataxia Cayman type disorder

715371006Cerebellar ataxia and ectodermal dysplasia disorder

1236804009Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome disorder

1217230002Cerebellar ataxia with oculomotor apraxia type 4 disorder

763344007Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome disorder

1237475006Cerebellar-facial-dental syndrome disorder

703219008Cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy disorder

711403001Cerebral folate transport deficiency disorder

1216942009Cerebral ventriculomegaly, cystic kidney disease disorder

720635002Cerebro-facio-thoracic dysplasia disorder

763353000Cerebrofacioarticular syndrome disorder

711482008Cerebroretinal microangiopathy with calcifications and cysts disorder

720852000Cervical hypertrichosis and peripheral neuropathy syndrome disorder

715795005Charcot-Marie-Tooth disease type 4 disorder

763136000Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

773668008Childhood encephalopathy due to thiamine pyrophosphokinase deficiency disorder

30174008Childhood hypophosphatasia disorder

702366001Childhood myocerebrohepatopathy spectrum disorder

787172004Childhood-onset autosomal recessive myopathy with external ophthalmoplegia disorder

785301002Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia disorder

1172584005Childhood-onset basal ganglia degeneration syndrome disorder

1187251009Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome disorder

773492007Childhood-onset spasticity with hyperglycinaemia disorder

716238003Chitty Hall Baraitser syndrome disorder

720640005Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome disorder

63246000Cholestanol storage disease disorder

28724005Cholestasis-oedema syndrome, Norwegian type disorder

715631005Chondrodysplasia punctata Toriello type disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

782882009Chondrodysplasia with joint dislocations gPAPP type disorder

26848004Chorea acanthocytosis syndrome disorder

720507006Chronic atrial and intestinal dysrhythmia disorder

1187194006Chronic enteropathy associated with SLCO2A1 gene disorder

773610007Chudley McCullough syndrome disorder

770407006Chuvash erythrocytosis disorder

702364003Chylomicron retention disease disorder

398680004Citrullinaemia disorder

1186861004Classical pantothenate kinase associated neurodegeneration disorder

778022009Classical-like Ehlers-Danlos syndrome type 1 disorder

1255121003Classical-like Ehlers-Danlos syndrome type 2 disorder

719456001Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome disorder

719468005Cleft palate with stapes fixation and oligodontia syndrome disorder

717771007Cloverleaf skull with multiple congenital anomalies syndrome disorder

785299009Cobblestone lissencephaly without muscular or ocular involvement disorder

732264002Coenzyme A synthase protein associated neurodegeneration disorder

724575009Coenzyme Q10 deficiency disorder

56604005Cohen syndrome disorder

702363009Cold-induced sweating syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

1197357008Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome disorder

713401006Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria disorder

715559004Combined deficiency of factor V and factor VIII disorder

1351892007Combined immunodeficiency due to CARD11 deficiency disorder

1186712009Combined immunodeficiency due to CARMIL2 deficiency disorder

1186715006Combined immunodeficiency due to CD70 deficiency disorder

717811007Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction disorder

1197205005Combined immunodeficiency due to DOCK8 deficiency disorder

1340041000Combined immunodeficiency due to FCHO1 deficiency disorder

1179286007Combined immunodeficiency due to GINS1 deficiency disorder

1186714005Combined immunodeficiency due to ITK deficiency disorder

1197477000Combined immunodeficiency due to LRBA deficiency disorder

773488000Combined immunodeficiency due to MALT1 deficiency disorder

766879006Combined immunodeficiency due to OX40 deficiency disorder

771479000Combined immunodeficiency due to STK4 deficiency disorder

1179288008Combined immunodeficiency due to TFRC deficiency disorder

784340000Combined immunodeficiency due to interleukin 21 receptor deficiency disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

1197428008Combined immunodeficiency, enteropathy spectrum disorder

783558004Combined oxidative phosphorylation defect type 11 disorder

763110007Combined oxidative phosphorylation defect type 13 disorder

778065005Combined oxidative phosphorylation defect type 14 disorder

763203009Combined oxidative phosphorylation defect type 15 disorder

775908005Combined oxidative phosphorylation defect type 17 disorder

764943000Combined oxidative phosphorylation defect type 2 disorder

763211004Combined oxidative phosphorylation defect type 21 disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

1222680009Combined oxidative phosphorylation defect type 24 disorder

1173035001Combined oxidative phosphorylation defect type 25 disorder

1173034002Combined oxidative phosphorylation defect type 26 disorder

1172844009Combined oxidative phosphorylation defect type 27 disorder

1187640000Combined oxidative phosphorylation defect type 28 disorder

1172843003Combined oxidative phosphorylation defect type 29 disorder

1172841001Combined oxidative phosphorylation defect type 30 disorder

1279845005Combined oxidative phosphorylation defect type 39 disorder

766876004Combined oxidative phosphorylation defect type 4 disorder

724279004Combined oxidative phosphorylation defect type 5 disorder

763204003Combined oxidative phosphorylation defect type 7 disorder

733600007Combined oxidative phosphorylation defect type 8 disorder

763209008Combined oxidative phosphorylation defect type 9 disorder

783178001Combined oxidative phosphorylation deficiency type 20 disorder

771443008Complement component 3 deficiency disorder

1279887007Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome disorder

1228858000Complex lethal osteochondrodysplasia disorder

763213001Conductive deafness, ptosis, skeletal anomalies syndrome disorder

719455002Cone dystrophy with supernormal rod response disorder

237751000Congenital adrenal hyperplasia disorder

716746003Congenital alpha-2-antiplasmin deficiency disorder

716336002Congenital amegakaryocytic thrombocytopenia disorder

718721006Congenital analbuminaemia disorder

1208617001Congenital autosomal recessive small-platelet thrombocytopenia disorder

1237626001Congenital axonal neuropathy with encephalopathy disorder

719454003Congenital bile acid synthesis defect type 3 disorder

1279837000Congenital cataract microcornea with corneal opacity disorder

719102004Congenital cataract with ataxia and deafness syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

722379001Congenital cataract with hypertrichosis and intellectual disability syndrome disorder

773648002Congenital cataract, hearing loss, severe developmental delay syndrome disorder

717812000Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome disorder

773398005Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome disorder

702433001Congenital cataracts, facial dysmorphism and neuropathy disorder

725462002Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency disorder

1177169004Congenital cerebellar ataxia due to RNU12 mutation disorder

773579007Congenital chronic diarrhoea with protein-losing enteropathy disorder

702360007Congenital deafness with labyrinthine aplasia, microtia and microdontia disorder

716698007Congenital deficiency of alpha-fetoprotein disorder

709412006Congenital disorder of glycosylation type 1c disorder

725078006Congenital disorder of glycosylation type 1e disorder

724096007Congenital disorder of glycosylation type 1f disorder

897592003Congenital disorder of glycosylation type 1i disorder

725079003Congenital disorder of glycosylation type 1j disorder

733084000Congenital disorder of glycosylation type 1n disorder

733085004Congenital disorder of glycosylation type 1p disorder

733601006Congenital disorder of glycosylation type 1q disorder

733083006Congenital disorder of glycosylation type 1r disorder

733111000Congenital disorder of glycosylation type 1w disorder

733112007Congenital disorder of glycosylation type 1x disorder

459063003Congenital disorder of glycosylation type Ia disorder

59548005Congenital dyserythropoietic anaemia, type I disorder

68870007Congenital dyserythropoietic anaemia, type II disorder

1201964008Congenital fibre-type disproportion myopathy due to ZAK mutation disorder

720749004Congenital hereditary endothelial dystrophy and perceptive deafness syndrome disorder

417395001Congenital hereditary endothelial dystrophy type 2 disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

719842006Congenital hypoplasia of ulna and intellectual disability syndrome disorder

1237623009Congenital insensitivity to pain with severe intellectual disability disorder

1279831004Congenital insensitivity to pain, anosmia, neuropathic arthropathy disorder

722390006Congenital intrauterine infection-like syndrome disorder

1231283007Congenital isolated adrenocorticotropic hormone deficiency disorder

1172594000Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome disorder

5388008Congenital lactase deficiency disorder

700150001Congenital leptin deficiency disorder

722391005Congenital lethal erythroderma disorder

773306002Congenital lethal myopathy Compton North type disorder

722392003Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells disorder

782757004Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome disorder

725420009Congenital muscular dystrophy Paradas type disorder

787037000Congenital muscular dystrophy type 1A disorder

764944006Congenital muscular dystrophy type 1B disorder

890368007Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation disorder

890395002Congenital muscular dystrophy type 1D large gene mutation disorder

715429006Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome disorder

771267003Congenital muscular dystrophy with integrin alpha-7 deficiency disorder

782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy disorder

1172688004Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome disorder

1366554003Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation disorder

763315005Congenital myopathy with myasthenic-like onset disorder

1255274002Congenital myopathy with reduced type 2 muscle fibres disorder

20305008Congenital myotonia, autosomal recessive form disorder

48796009Congenital nephrotic syndrome disorder

733453005Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome disorder

1371048007Congenital neutropenia, combined immunodeficiency due to MKL1 deficiency disorder

775909002Congenital neutropenia, myelofibrosis, nephromegaly syndrome disorder

717407006Congenital plasminogen activator inhibitor deficiency type 1 disorder

718610008Congenital pontocerebellar hypoplasia type 1 disorder

782720005Congenital pontocerebellar hypoplasia type 10 disorder

1300188000Congenital pontocerebellar hypoplasia type 11 disorder

1300190004Congenital pontocerebellar hypoplasia type 12 disorder

1300191000Congenital pontocerebellar hypoplasia type 13 disorder

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

715463008Congenital pontocerebellar hypoplasia type 2 disorder

718609003Congenital pontocerebellar hypoplasia type 3 disorder

718608006Congenital pontocerebellar hypoplasia type 4 disorder

718607001Congenital pontocerebellar hypoplasia type 5 disorder

718606005Congenital pontocerebellar hypoplasia type 6 disorder

718605009Congenital pontocerebellar hypoplasia type 7 disorder

718611007Congenital pontocerebellar hypoplasia type 8 disorder

775907000Congenital pontocerebellar hypoplasia type 9 disorder

24412005Congenital secretory diarrhoea, chloride type disorder

765327005Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome disorder

234353009Congenital transferrin deficiency disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

763318007Connective tissue disorder due to lysyl hydroxylase-3 deficiency disorder

766874001Cono-spondylar dysplasia disorder

764946008Constitutional mismatch repair deficiency syndrome disorder

720748007Cooper Jabs syndrome disorder

720750004Corneal cerebellar syndrome disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

205506004Craniodiaphyseal dysplasia disorder

773622005Craniofacial dysplasia osteopenia syndrome disorder

1217229007Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome disorder

720755009Craniofacial dyssynostosis syndrome disorder

720756005Craniofacial ulnar renal syndrome disorder

725100001Craniolenticulosutural dysplasia disorder

725099009Craniometadiaphyseal dysplasia wormian bone type disorder

725098001Craniomicromelic syndrome disorder

720753002Cranioosteoarthropathy disorder

773332008Craniosynostosis and dental anomalies syndrome disorder

720816004Craniosynostosis and intracranial calcification syndrome disorder

732250002Craniosynostosis fibular aplasia syndrome disorder

720812002Craniosynostosis, anal anomaly, porokeratosis syndrome disorder

8933000Crigler-Najjar syndrome, type I disorder

722381004Crome syndrome disorder

204102004Cryptophthalmos syndrome disorder

277807007Curry-Hall syndrome disorder

720820000Cutaneous photosensitivity and lethal colitis syndrome disorder

59451000Cutis laxa, autosomal recessive disorder

24308003Cystathionine beta-synthase deficiency disorder

13003007Cystathioninuria disorder

190905008Cystic fibrosis disorder

720825005Cystic leucoencephalopathy without megalencephaly disorder

190681003Cystinosis disorder

37183000Cystinuria, type 1 disorder

1172901009Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder disorder

719021005DK phocomelia syndrome disorder

1197479002DOCK2 deficiency disorder

1236845001DONSON-related microcephaly, short stature, limb abnormalities spectrum disorder

719800009DOORS syndrome disorder

733094005Dandy-Walker malformation with postaxial polydactyly syndrome disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

720506002Deafness and myopia syndrome disorder

715527006Deafness and oligodontia syndrome disorder

763688008Deafness, encephaloneuropathy, obesity, valvulopathy syndrome disorder

733071009Deafness, small bowel diverticulosis, neuropathy syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

725291001Defect of purinergic receptor p2y G protein-coupled 12 disorder

124274002Deficiency of AMP pyrophorylase disorder

360994007Deficiency of Xaa-Pro dipeptidase disorder

124258007Deficiency of acetyl-CoA acetyltransferase disorder

733630004Deficiency of alpha-ketoglutarate dehydrogenase disorder

709282004Deficiency of aminoacylase 1 disorder

719449007Deficiency of dimethylglycine dehydrogenase disorder

124302001Deficiency of galactokinase disorder

1187616008Deficiency of galactose mutarotase disorder

712641002Deficiency of glucosyltransferase 1 disorder

124628005Deficiency of histidine ammonia-lyase disorder

784339002Deficiency of interleukin 36 receptor antagonist disorder

717185008Deficiency of leukotriene C4 synthase disorder

124680001Deficiency of methylmalonyl-CoA mutase disorder

712640001Deficiency of phosphomannomutase 2 disorder

238035000Delta-4-3-oxosteroid-5-beta-reductase deficiency disorder

722760002Dense deposit disease disorder

721089006Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome disorder

733044009Dermatoleukodystrophy disorder

721090002Dermatoosteolysis Kirghizian type disorder

1237225007Dermatosparaxis Ehlers-Danlos syndrome disorder

254099008Desbuquois syndrome disorder

709490002Desmosterolosis disorder

782828005Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency disorder

770790004Developmental delay with autism spectrum disorder and gait instability disorder

721094006Diaphanospondylodysostosis disorder

721095007Diaphragmatic defect, limb deficiency, skull defect syndrome disorder

58561002Diastrophic dysplasia disorder

783741006Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency disorder

50056009Dibasic amino aciduria type 1 disorder

716747007Dicarboxylic aminoaciduria syndrome disorder

766871009Diencephalic mesencephalic junction dysplasia disorder

782737003Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome disorder

236528009Diffuse mesangial sclerosis with ocular abnormalities disorder

771261002Digital extensor muscle aplasia with polyneuropathy disorder

77365006Dihydropyrimidine dehydrogenase deficiency disorder

719451006Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome disorder

783166000Distal anoctaminopathy disorder

773396009Distal arthrogryposis type 5D disorder

722429003Distal limb deficiency with micrognathia syndrome disorder

111506000Distal muscular dystrophy, Miyoshi type disorder

782675008Distal myopathy with anterior tibial onset disorder

702418009Donnai-Barrow syndrome disorder

722763000Dopamine transporter deficiency syndrome disorder

767133009Double heterozygous familial hypercholesterolaemia disorder

44553005Dubin-Johnson syndrome disorder

733070005Duplication of eyebrow and syndactyly syndrome disorder

82699004Dyggve-Melchior-Clausen syndrome disorder

230782004Dysequilibrium syndrome disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

765204000Dyssegmental dysplasia Silverman Handmaker type disorder

722435003Dystonia 16 disorder

1351962002EGF-related primary hypomagnesaemia with intellectual disability disorder

1260203008EVEN-plus syndrome disorder

703508009Ear, patella, short stature syndrome disorder

702343002Early onset myopathy with fatal cardiomyopathy disorder

733082001Early-onset Lafora body disease disorder

1222661007Early-onset calcifying leucoencephalopathy, skeletal dysplasia disorder

1172627007Early-onset epilepsy, intellectual disability, brain anomalies syndrome disorder

773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder

1236844002Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome disorder

1172593006Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome disorder

1172588008Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome disorder

771514002Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome disorder

1187042007Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome disorder

771469002Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome disorder

732953008Ectodermal dysplasia and sensorineural deafness syndrome disorder

771335004Ectodermal dysplasia syndactyly syndrome disorder

721208007Ectodermal dysplasia with blindness syndrome disorder

720856002Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome disorder

1279835008Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome disorder

722437006Ectopia lentis, chorioretinal dystrophy, myopia syndrome disorder

771177009Ectrodactyly polydactyly syndrome disorder

720858001Ehlers-Danlos syndrome cardiac valvular type disorder

718211004Ehlers-Danlos syndrome kyphoscoliotic type disorder

720860004Ehlers-Danlos syndrome musculocontractural type disorder

720861000Ehlers-Danlos syndrome progeroid type disorder

773276004Ehlers-Danlos syndrome spondylocheirodysplastic type disorder

720863002Eiken syndrome disorder

109477002Enamel-renal syndrome disorder

720864008Encephalopathy due to prosaposin deficiency disorder

715980003Encephalopathy due to sulphite oxidase deficiency disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

254132000Endosteal hyperostoses with cerebellar hypoplasia disorder

711160007Eosinophil peroxidase deficiency disorder

19138001Epidermodysplasia verruciformis disorder

733032006Epilepsy telangiectasia syndrome disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

726702005Epileptic encephalopathy with global cerebral demyelination disorder

721975004Epiphyseal dysplasia, microcephalus, nystagmus syndrome disorder

783615009Erythropoietic uroporphyria associated with myeloid malignancy disorder

40278002Essential benign fructosuria disorder

190764000Essential pentosuria disorder

64235006Ethanolaminosis disorder

723307008Ethylmalonic encephalopathy disorder

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

723334006FADD-related immunodeficiency disorder

778029000FASTKD2-related infantile mitochondrial encephalomyopathy disorder

774070008FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome disorder

771515001Facial dysmorphism, immunodeficiency, livedo, short stature syndrome disorder

770728003Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome disorder

733417008Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome disorder

723333000Faciocardiorenal syndrome disorder

723336008Fallot complex with intellectual disability and growth delay syndrome disorder

39674000Familial C3B inhibitor deficiency syndrome disorder

77759009Familial acantholysis disorder

782917007Familial adrenal hypoplasia with absent pituitary luteinising hormone disorder

774066000Familial angiolipomatosis disorder

770434009Familial benign flecked retina disorder

1197489003Familial chylomicronemia syndrome disorder

1230016009Familial congenital nasolacrimal duct obstruction disorder

127065001Familial erythrocytosis due to diphosphoglycerate mutase deficiency disorder

1264340007Familial gastric type 1 neuroendocrine neoplasm disorder

765326001Familial glucocorticoid deficiency disorder

398250003Familial haemophagocytic lymphohistiocytosis disorder

723360007Familial hypercholanemia disorder

721838005Familial hypertryptophanaemia disorder

715343000Familial hypoaldosteronism disorder

81987005Familial hypokalaemic alkalosis, Gullner type disorder

784342008Familial infantile myoclonic epilepsy disorder

764523004Familial isolated trichomegaly disorder

718552009Familial median cleft of upper and lower lip disorder

1304111007Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis disorder

234161007Familial pulmonary capillary haemangiomatosis disorder

75652008Familial renal iminoglycinuria disorder

1187040004Familial steroid-resistant nephrotic syndrome with adrenal insufficiency disorder

783614008Familial steroid-resistant nephrotic syndrome with sensorineural deafness disorder

1285021005Fanconi anaemia of complementation group C disorder

782883004Fatal infantile hypertonic myofibrillar myopathy disorder

720951008Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 disorder

774206008Fatal post-viral neurodegenerative disorder disorder

702419001Fatty acid hydroxylase associated neurodegeneration disorder

1156591005Fatty acid oxidation defect disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

1220575002Fetal encasement syndrome disorder

1208726006Fever-associated acute infantile liver failure syndrome disorder

1348304006Fibrosis, neurodegeneration, cerebral angiomatosis syndrome disorder

715474004Fibular aplasia and complex brachydactyly disorder

720954000Filippi syndrome disorder

720955004Fine Lubinsky syndrome disorder

238092004Fish-eye disease disorder

765089003Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome disorder

789161001Focal facial dermal dysplasia type IV disorder

720957007Fountain syndrome disorder

782754006Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome disorder

254150007Francois syndrome disorder

720958002Frank-Ter Haar syndrome disorder

10394003Friedreich ataxia disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

773628009Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome disorder

1230021007Frontorhiny disorder

28183005Fructose-biphosphatase deficiency disorder

702432006Fryns syndrome disorder

64716005Fucosidosis disorder

721296004Fuhrmann syndrome disorder

721843003GAPO syndrome disorder

1228875006GCGR-related hyperglucagonaemia disorder

238025006GM1 gangliosidosis disorder

722762005GM3 synthase deficiency disorder

1186711002GNB5-related intellectual disability, cardiac arrhythmia syndrome disorder

703388005GRACILE syndrome disorder

8849004Galactose epimerase deficiency disorder

192782005Galactosylceramide beta-galactosidase deficiency disorder

189979005Galactosylceramide lipidosis disorder

721297008Galloway Mowat syndrome disorder

78586005Gamma-glutamyl transpeptidase deficiency disorder

190794006Gaucher's disease disorder

419900000Gelatinous droplike corneal dystrophy disorder

782690007Gemignani syndrome disorder

1156814008Generalised congenital lipodystrophy with myopathy disorder

773749003Genitopalatocardiac syndrome disorder

733037000German syndrome disorder

254116003Geroderma osteodysplastica disorder

389214003Ghosal haematodiaphyseal dysplasia disorder

389275009Giacci familial neurogenic acroosteolysis disorder

128207002Giant axonal neuropathy disorder

719687007Gingival fibromatosis with facial dysmorphism syndrome disorder

707756004Gitelman syndrome disorder

45414006Glucocorticoid deficiency with achalasia disorder

190749000Glucose-galactose malabsorption disorder

59761008Glutamate formiminotransferase deficiency disorder

36799008Glutamate-cysteine ligase deficiency disorder

22886006Glutaric aciduria, type 2 disorder

360416003Glutaryl-CoA dehydrogenase deficiency disorder

238070003Glutaryl-CoA oxidase deficiency disorder

234589002Glutathione synthetase deficiency disorder

63329001Glycine dehydrogenase (decarboxylating) deficiency disorder

274864009Glycogen storage disease due to acid maltase deficiency disorder

1187461004Glycogen storage disease due to aldolase A deficiency disorder

1186809004Glycogen storage disease due to lactate dehydrogenase deficiency disorder

1162916008Glycogen storage disease due to muscle beta-enolase deficiency disorder

717821004Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency disorder

7265005Glycogen storage disease, type I disorder

29291001Glycogen storage disease, type VI disorder

717822006Goldberg Shprintzen megacolon syndrome disorder

716096005Goldblatt Wallis syndrome disorder

232065000Goldmann-Favre syndrome disorder

716022002Gollop syndrome disorder

93466004Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance disorder

205800003Gorlin-Chaudhry-Moss syndrome disorder

77542002Grebe syndrome disorder

774205007Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome disorder

724385009Growth delay due to insulin-like growth factor type 1 deficiency None

1186713004Growth delay, intellectual disability, hepatopathy syndrome disorder

774204006Growth retardation, mild developmental delay, chronic hepatitis syndrome disorder

763186006Grubben, De Cock, Borghgraef syndrome disorder

1217380005HELIX syndrome disorder

74703006HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency disorder

62268000HNSHA due to diphosphoglycerate mutase deficiency disorder

52413004HNSHA due to glucose phosphate isomerase deficiency disorder

52212006HNSHA due to glutathione reductase deficiency disorder

111579006HNSHA due to glutathione synthetase deficiency disorder

34194007HNSHA due to pyrimidine-5'-nucleotidase deficiency disorder

1186847009Haemochromatosis type 1 disorder

719974003Haemochromatosis type 3 disorder

5300004Haemoglobin Bart's hydrops syndrome disorder

1148910003Haemoglobin C beta thalassaemia disorder

234392002Haemoglobin E/beta thalassaemia disease disorder

766982000Haemolytic anaemia due to adenylate kinase deficiency disorder

719973009Haim Munk syndrome disorder

721007005Hair defect with photosensitivity and intellectual disability syndrome disorder

721008000Hall Riggs syndrome disorder

771180005Hallux varus, preaxial polysyndactyly syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

1230003009Heme oxygenase-1 deficiency disorder

722453009Hennekam Beemer syndrome disorder

234146006Hennekam syndrome disorder

771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome disorder

725026008Hepatic glycogen synthase deficiency disorder

720940008Hepatic lipase deficiency disorder

764962002Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disorder

37702000Hereditary acrodermatitis enteropathica disorder

71974009Hereditary adrenal unresponsiveness to corticotropin disorder

718602007Hereditary arterial and articular multiple calcification syndrome disorder

1296959007Hereditary butyrylcholinesterase deficiency disorder

724356003Hereditary combined deficiency of vitamin K-dependent clotting factors disorder

1162804003Hereditary congenital prekallikrein deficiency disorder

230557001Hereditary dysautonomia with motor neuropathy disorder

37350004Hereditary factor X deficiency disease disorder

49762007Hereditary factor XI deficiency disease disorder

43217004Hereditary factor XII deficiency disease disorder

20052008Hereditary fructosuria disorder

724350009Hereditary hypotrichosis with recurrent skin vesicles syndrome disorder

771144005Hereditary motor and sensory neuropathy with acrodystrophy disorder

783254003Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome disorder

9434008Hereditary pyropoikilocytosis disorder

1279838005Hereditary sensory and autonomic neuropathy type 6 disorder

1172838005Hereditary sensory and autonomic neuropathy type 8 disorder

717826009Hereditary sensory and autonomic neuropathy with deafness and global delay disorder

860809000Hereditary sensory autonomic neuropathy type IIA disorder

860810005Hereditary sensory autonomic neuropathy type IIB disorder

1254941001Hereditary sensory autonomic neuropathy type IIC disorder

359732009Hereditary von Willebrand disease type 2N disorder

128108002Hereditary von Willebrand disease type 3 disorder

54627004Hereditary xanthinuria disorder

721147000Hidrotic ectodermal dysplasia Halal type disorder

721221000Hirschsprung disease with deafness and polydactyly syndrome disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

711159002Histiocytosis-lymphadenopathy plus syndrome disorder

716091000Holoprosencephaly and postaxial polydactyly syndrome disorder

783159001Holzgreve syndrome disorder

721225009Homocystinuria without methylmalonic aciduria disorder

360378009Homogentisate 1,2-dioxygenase deficiency disorder

702381007Horizontal gaze palsy with progressive scoliosis disorder

770939009Huntington disease-like 3 disorder

732926009Hydrocephalus, tall stature, joint laxity syndrome disorder

721232000Hydrolethalus syndrome disorder

57119000Hyperammonaemia, type III disorder

764456001Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency disorder

724344004Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency disorder

721233005Hypergonadotropic hypogonadism with cataract syndrome disorder

403834003Hyperimmunoglobulinaemia D with periodic fever disorder

721236002Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency disorder

768553002Hypermanganesemia with dystonia disorder

763720007Hypermethioninaemia due to deficiency of glycine N-methyltransferase disorder

763721006Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase disorder

30287008Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome disorder

1177177000Hyperphenylalanineaemia due to DNAJC12 deficiency disorder

33982008Hyperphosphatasaemia with intellectual disability disorder

717181004Hyperprolinaemia type 2 disorder

721836009Hypertelorism with microtia and facial clefting syndrome disorder

718713000Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome disorder

776416004Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome disorder

47719001Hypervalinaemia disorder

711161006Hypochromic microcytic anaemia with iron overload disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

773553003Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome disorder

711151004Hypomagnesaemia with secondary hypocalcaemia disorder

721845005Hypomandibular faciocranial dysostosis disorder

702379005Hypomyelination and congenital cataract disorder

766931003Hypomyelination neuropathy arthrogryposis syndrome disorder

777999008Hypomyelination with brain stem and spinal cord involvement and leg spasticity disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

773673002Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome disorder

763722004Hypotonia, speech impairment, severe cognitive delay syndrome disorder

723365002Hypotrichosis and intellectual disability syndrome Lopes type disorder

723364003Hypotrichosis with juvenile macular degeneration syndrome disorder

70199000I-cell disease disorder

1173999006IL21-related infantile inflammatory bowel disease disorder

1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement disorder

720514008Illum syndrome disorder

86204009Immotile cilia syndrome disorder

771333006Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome disorder

1186654001Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome disorder

778028008Immunodeficiency due to CD25 deficiency disorder

783621008Immunodeficiency with factor I anomaly disorder

702382000Inclusion body myopathy 2 disorder

782822006Infantile cerebellar and retinal degeneration disorder

770725000Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly disorder

724228005Infantile choroidocerebral calcification syndrome disorder

1156826003Infantile glycine encephalopathy disorder

771513008Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency disorder

55236002Infantile hypophosphatasia disorder

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

367489004Infantile malignant osteopetrosis disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

1303585005Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome disorder

724227000Infantile onset spinocerebellar ataxia disorder

724226009Infantile osteopetrosis with neuroaxonal dysplasia syndrome disorder

782886007Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome disorder

238867003Infantile systemic hyalinosis disorder

785300001Infantile-onset autosomal recessive non progressive cerebellar ataxia disorder

1260129000Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome disorder

1172603005Infantile-onset generalised dyskinesia with orofacial involvement disorder

773421009Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression disorder

764960005Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency disorder

725906006Intellectual disability Buenos Aires type disorder

773405004Intellectual disability with strabismus syndrome disorder

782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder

1351838008Intellectual disability, early-onset cataract, microcephaly syndrome disorder

721146009Intellectual disability, epilepsy, bulbous nose syndrome disorder

1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder

773416006Intellectual disability, facial dysmorphism, hand anomalies syndrome disorder

787174003Intellectual disability, hyperkinetic movement, truncal ataxia syndrome disorder

722455002Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome disorder

773621003Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

763350002Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome disorder

774102003Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

699869003Interleukin-1 receptor-associated kinase 4 deficiency disorder

1222678003Interstitial lung disease due to ABCA3 deficiency disorder

56661000Intestinal enteropeptidase deficiency disorder

715669000Intestinal epithelial dysplasia disorder

733447005Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency disorder

1177178005Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome disorder

17885001Iodotyrosine deiodination defect disorder

722005000Iron-refractory iron deficiency anaemia disorder

1306747001Isobutyryl-CoA dehydrogenase deficiency disease disorder

780820008Isolated ATP synthase deficiency disorder

758664007Isolated follicle stimulating hormone deficiency disorder

1187178004Isolated generalised anhidrosis with normal sweat glands disorder

709413001Isolated hyperchlorhidrosis disorder

1363062007Isolated multiple intestinal atresia disorder

1220580006Isolated neonatal sclerosing cholangitis disorder

718135001Isolated right ventricular hypoplasia disorder

253336000Isomerism of right atrial appendage disorder

87827003Isovaleryl-CoA dehydrogenase deficiency disorder

61367005Jarcho-Levin syndrome disorder

771470001Jawad syndrome disorder

373905003Jervell and Lange-Nielsen syndrome disorder

75049004Jeune thoracic dystrophy disorder

716997004Joubert syndrome disorder

399971009Junctional epidermolysis bullosa disorder

718555006Juvenile amyotrophic lateral sclerosis disorder

50855007Juvenile haemochromatosis disorder

238861002Juvenile hyaline fibromatosis disorder

717964007Juvenile primary lateral sclerosis disorder

1300133004KLHL7-related Bohring Opitz-like syndrome disorder

722027009Kallman syndrome with heart disease disorder

765191009Kandori fleck retina syndrome disorder

722031003Kapur Toriello syndrome disorder

782738008Karyomegalic interstitial nephritis disorder

724208006Keutel syndrome disorder

238836000Kindler epidermolysis bullosa disorder

1217225001Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome disorder

770942003Kostmann syndrome disorder

723992000Kufor Rakeb syndrome disorder

702447002Kuskokwim syndrome disorder

1172591008Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome disorder

771447009LAMB2-related infantile-onset nephrotic syndrome disorder

1197751007LIPE-related familial partial lipodystrophy disorder

724179008Laron syndrome with immunodeficiency disorder

38196001Laron-type isolated somatotropin defect disorder

763778003Larsen-like syndrome B3GAT3 type disorder

719257008Lathosterolosis disorder

232059000Laurence-Moon syndrome disorder

719429003Lelis syndrome disorder

111307005Leprechaunism syndrome disorder

93132001Lethal Kniest-like syndrome disorder

719409004Lethal Larsen-like syndrome disorder

782773005Lethal arteriopathy syndrome due to fibulin-4 deficiency disorder

715565004Lethal arthrogryposis with anterior horn cell disease disorder

1229876001Lethal brain and heart developmental defects syndrome disorder

715418007Lethal congenital contracture syndrome type 1 disorder

715419004Lethal congenital contracture syndrome type 2 disorder

715420005Lethal congenital contracture syndrome type 3 disorder

763346009Lethal congenital contracture syndrome type 5 disorder

719400000Lethal faciocardiomelic dysplasia disorder

1237470001Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome disorder

1237342004Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome disorder

1172839002Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome disorder

60192008Lethal multiple pterygium syndrome disorder

1197587003Lethal neonatal spasticity, epileptic encephalopathy syndrome disorder

773672007Lethal occipital encephalocele, skeletal dysplasia syndrome disorder

719408007Lethal omphalocele with cleft palate syndrome disorder

778026007Lethal polymalformative syndrome Boissel type disorder

1362022003Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome disorder

719404009Lethal recessive chondrodysplasia disorder

1187233008Leucocyte adhesion deficiency disorder

735421004Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome disorder

703537008Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation disorder

1186710001Leucoencephalopathy with calcifications and cysts disorder

733452000Leucoencephalopathy, dystonia, motor neuropathy syndrome disorder

771184001Leucoencephalopathy, palmoplantar keratoderma syndrome disorder

763366000Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome disorder

56212008Leydig cell agenesis disorder

763668009Lichtenstein syndrome disorder

38692000Lipid proteinosis disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

782744007Lipoic acid synthetase deficiency disorder

446923008Lipoprotein glomerulopathy disorder

782745008Lipoyl transferase 1 deficiency disorder

717977003Lissencephaly syndrome Norman Roberts type disorder

718719001Lissencephaly type 3 familial fetal akinesia sequence syndrome disorder

718720007Lissencephaly type 3 metacarpal bone dysplasia syndrome disorder

47444008Lucey-Driscoll syndrome disorder

721976003Lung agenesis with heart defect and thumb anomaly syndrome disorder

1354861009Lung disease, immunodeficiency, chromosome breakage syndrome disorder

721978002Lymphoedema, atrial septal defect, facial changes syndrome disorder

1204421005Lymphoedema, posterior choanal atresia syndrome disorder

303852004Lysinuric protein intolerance disorder

715923003Lysosomal acid lipase deficiency disorder

1169358003MARCH syndrome disorder

1236805005MEPAN syndrome disorder

724137002MOMO syndrome disorder

715628009MORM syndrome disorder

1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder

1251451005MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome disorder

716023007MacDermot Winter syndrome disorder

763773007Macrocephaly and developmental delay syndrome disorder

773282001Macrosomia, microphthalmia, cleft palate syndrome disorder

722463001Macular coloboma, cleft palate, hallux valgus syndrome disorder

60258001Macular corneal dystrophy disorder

703540008Majeed syndrome disorder

725136003Major histocompatibility complex class I deficiency disorder

191002000Major histocompatibility complex class II deficiency disorder

239069005Mal de Meleda disorder

719398004Malignant hyperthermia with arthrogryposis and torticollis syndrome disorder

361203007Malonic aciduria disorder

109419009Mandibuloacral dysostosis disorder

1373746006Mandibuloacral dysplasia associated to MTX2 disorder

703539006Manitoba oculotrichoanal syndrome disorder

1231141008Mannosephosphate isomerase congenital disorder of glycosylation disorder

65524005Mannosidosis disorder

725028009Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation disorder

27718001Maple syrup urine disease disorder

449824004Marden Walker syndrome disorder

733062000Marfanoid habitus with autosomal recessive intellectual disability syndrome disorder

80734006Marinesco-Sjögren syndrome disorder

69463008Maroteaux-Lamy syndrome disorder

297225000Maternal phenylketonuria disorder

702407009McKusick Kaufman syndrome disorder

1230273004Megaconial congenital muscular dystrophy disorder

703536004Megalencephalic leucoencephalopathy with subcortical cysts disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

237617006Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness disorder

783246000Megalocornea, spherophakia, secondary glaucoma syndrome disorder

716869006Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency disorder

723384004Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency disorder

718230004Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency disorder

721876004Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency disorder

721877008Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency disorder

724170007Mesoaxial synostotic syndactyly with phalangeal reduction syndrome disorder

396338004Metachromatic leukodystrophy disorder

7720002Metaphyseal chondrodysplasia, McKusick type disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

13144005Methylcrotonyl-CoA carboxylase deficiency disorder

28093001Methylene THF reductase deficiency AND homocystinuria disorder

765137006Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency disorder

771444002Methylmalonic aciduria due to transcobalamin receptor defect disorder

718558008Mevalonic aciduria disorder

723403008Microbrachycephaly, ptosis, cleft lip syndrome disorder

1187195007Microcephalic cortical malformations, short stature due to RTTN deficiency disorder

723404002Microcephalic osteodysplastic dysplasia Saul Wilson type disorder

1208348002Microcephalic osteodysplastic primordial dwarfism type II disorder

725461009Microcephalic osteodysplastic primordial dwarfism types I and III disorder

770564004Microcephalic primordial dwarfism Alazami type disorder

770565003Microcephalic primordial dwarfism Dauber type disorder

715482004Microcephalic primordial dwarfism Toriello type disorder

724141003Microcephalic primordial dwarfism due to ZNF335 deficiency disorder

1220596009Microcephalic primordial dwarfism, insulin resistance syndrome disorder

719380003Microcephalus cardiomyopathy syndrome disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

719379001Microcephalus with cardiac defect and lung malsegmentation syndrome disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

763798008Microcephalus, complex motor and sensory axonal neuropathy syndrome disorder

733472005Microcephalus, glomerulonephritis, marfanoid habitus syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

715462003Microcephaly with cervical spine fusion anomaly disorder

1172683008Microcephaly, congenital cataract, psoriasiform dermatitis syndrome disorder

721903007Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome disorder

1254651003Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome disorder

773305003Microcephaly, polymicrogyria, corpus callosum agenesis syndrome disorder

771074000Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome disorder

770721009Microcephaly, thin corpus callosum, intellectual disability syndrome disorder

703369003Microcephaly-capillary malformation syndrome disorder

774212003Microcornea, myopic chorioretinal atrophy, telecanthus syndrome disorder

723405001Microlissencephaly micromelia syndrome disorder

720010009Microphthalmia with brain atrophy syndrome disorder

765401006Mitochondrial DNA depletion syndrome encephalomyopathic form disorder

782771007Mitochondrial DNA depletion syndrome hepatocerebrorenal form disorder

783734000Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency disorder

1365878007Mitochondrial complex I deficiency nuclear type 10 disorder

1231309005Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form disorder

771478008Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency disorder

709415008Mitochondrial membrane protein associated neurodegeneration disorder

724138007Mitochondrial myopathy with sideroblastic anaemia syndrome disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

1187515001Mitochondrial phosphate carrier deficiency disorder

1217212009Mitochondrial pyruvate carrier deficiency disorder

60045007Moderate steroid 21-hydroxylase deficiency disorder

1779005Mohr syndrome disorder

378007Morquio syndrome disorder

718551002Moyamoya disease with early onset achalasia disorder

725296006Mucolipidosis type IV disorder

75610003Mucopolysaccharidosis, MPS-I disorder

43916004Mucopolysaccharidosis, MPS-VII disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

716868003Multicentric osteolysis nodulosis arthropathy spectrum disorder

1172966001Multiple carboxylase deficiency disorder

785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder

719688002Multiple epiphyseal dysplasia Al-Gazali type disorder

715672007Multiple epiphyseal dysplasia type 4 disorder

1363114004Multiple epiphyseal dysplasia type 7 disorder

720827002Multiple mitochondrial dysfunctions syndrome disorder

54898003Multiple sulphatase deficiency disorder

9105005Muscle AMP deaminase deficiency disorder

725027004Muscle and heart glycogen synthase deficiency disorder

785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder

61772003Muscle phosphoglycerate mutase deficiency disorder

111505001Muscle-eye-brain disease, congenital muscular dystrophy disorder

699328003Myoclonic epilepsy myopathy sensory ataxia disorder

699268002Myopathy with deficiency of iron-sulfur cluster assembly enzyme disorder

763895001Myosclerosis disorder

1251446004NAD(P)HX dehydratase deficiency disorder

1251447008NAD(P)HX epimerase deficiency disorder

1237462006NDE1-related microhydranencephaly disorder

1179299005NEK9-related lethal skeletal dysplasia disorder

768846004NGLY1-congenital disorder of deglycosylation disorder

1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder

773737004NPHP3-related Meckel-like syndrome disorder

1300131002NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance disorder

764995008Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome disorder

702449004Nakajo-Nishimura syndrome disorder

716170005Nathalie syndrome disorder

723439002Native American myopathy disorder

784346006Navajo neurohepatopathy disorder

724094005Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome disorder

1222662000Neonatal epileptic encephalopathy due to glutaminase deficiency disorder

773662009Neonatal inflammatory skin and bowel disease disorder

238874008Neonatal pseudo-hydrocephalic progeroid syndrome disorder

204958008Nephronophthisis disorder

724093004Nephropathy, deafness, hyperparathyroidism syndrome disorder

773647007Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome disorder

773331001Nestor Guillermo progeria syndrome disorder

722488009Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency disorder

1303586006Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

724091002Neuroectodermal melanolysosomal disease disorder

725908007Neurofaciodigitorenal syndrome disorder

715316005Neurogenic arthrogryposis multiplex congenita disorder

1373563007Neuronal ceroid lipofuscinosis type 1 disorder

1375924007Neuronal ceroid lipofuscinosis type 10 disorder

1373775000Neuronal ceroid lipofuscinosis type 11 disorder

1373777008Neuronal ceroid lipofuscinosis type 13 disorder

1373561009Neuronal ceroid lipofuscinosis type 2 disorder

1375926009Neuronal ceroid lipofuscinosis type 3 disorder

1373773007Neuronal ceroid lipofuscinosis type 6 disorder

1373774001Neuronal ceroid lipofuscinosis type 7 disorder

1373770005Neuronal ceroid lipofuscinosis type 8 disorder

699315005Neutral lipid storage disease with myopathy disorder

771308008Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome disorder

723442008Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome disorder

1220598005Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy disorder

765435009OTULIN-related autoinflammatory syndrome disorder

783549006Obesity due to CEP19 deficiency disorder

783719006Obesity due to SIM1 deficiency disorder

785722006Obesity due to leptin receptor gene deficiency disorder

722053001Obesity due to prohormone convertase I deficiency disorder

782879004Occipital pachygyria and polymicrogyria disorder

405809000Ocular motor apraxia Cogan type disorder

763815000Oculoauricular syndrome Schorderet type disorder

716174001Oculocerebral hypopigmentation syndrome of Preus type disorder

1255268002Oculocerebrodental syndrome disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

63844009Oculocutaneous albinism disorder

722060007Oculogastrointestinal muscular dystrophy disorder

722061006Oculoosteocutaneous syndrome disorder

722055008Oculopalatocerebral syndrome disorder

708672004Odontohypophosphatasia disorder

239028001Odontotrichomelic syndrome disorder

193687000Oguchi's disease disorder

41962002Oligohydramnios sequence disorder

719944006Oliver McFarlane syndrome disorder

721017000Oliver syndrome disorder

703403003Ophthalmo-acromelic syndrome disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

763837007Oro-facial digital syndrome type 14 disorder

722105002Oro-facial digital syndrome type 5 disorder

718680001Oro-facial digital syndrome type 9 disorder

239030004Orofacial-digital syndrome III disorder

239031000Orofacial-digital syndrome IV disorder

47641009Orotic aciduria disorder

15552004Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts disorder

732954002Osteopenia, intellectual disability, sparse hair syndrome disorder

773730002Osteopetrosis hypogammaglobulinaemia syndrome disorder

722113001Osteoporosis and oculocutaneous hypopigmentation syndrome disorder

1237513008Osteosclerotic metaphyseal dysplasia disorder

441944007Oto-onycho-peroneal syndrome disorder

254060000Otospondylomegaepiphyseal dysplasia disorder

1381540004P3H2 gene related high myopia, cataract, vitreoretinal degeneration disorder

724576005P5PD developmental and epileptic encephalopathy disorder

1367655003PAICS deficiency disorder disorder

1228871002PCNA-related progressive neurodegenerative photosensitivity syndrome disorder

783717008PGM1-related congenital disorder of glycosylation disorder

1187623009PGM3-related congenital disorder of glycosylation disorder

723453002PHAVER syndrome disorder

1217367007PLAA-associated neurodevelopmental disorder disorder

1237509001PLACK syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

1237421000PYCR2-related microcephaly, progressive leucoencephalopathy disorder

88220006Pachydermoperiostosis syndrome disorder

763861000Pachygyria, intellectual disability, epilepsy syndrome disorder

722127006Pacman dysplasia disorder

722205008Palmoplantar keratoderma Nagashima type disorder

722202006Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome disorder

722207000Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome disorder

78960005Pancreatic triacylglycerol lipase deficiency disorder

774071007Pancytopenia with developmental delay syndrome disorder

40158001Papillon-Lefèvre syndrome disorder

239078004Papuloverrucous palmoplantar keratoderma of Jakac-Wolf disorder

783013001Parana hard skin syndrome disorder

783012006Parkinsonian pyramidal syndrome disorder

773497001Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome disorder

719044008Partial pancreatic agenesis disorder

717042001Pelizaeus Merzbacher like disease disorder

719299009Pelviscapular dysplasia disorder

401138005Pena-Shokeir syndrome type I disorder

70348004Pendred's syndrome disorder

71436005Periodic fever, immunodeficiency, thrombocytopenia syndrome disorder

722231005Perlman syndrome disorder

724067006Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome disorder

742876007Peroxisome biogenesis disorder disorder

702358005Persistent Müllerian duct syndrome disorder

449817000Peters plus syndrome disorder

190687004Phenylketonuria disorder

723449004Pierson syndrome disorder

1230005002Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome disorder

723451000Pili torti onychodysplasia syndrome disorder

771240009Pilodental dysplasia, refractive errors syndrome disorder

772126000Poikiloderma with neutropenia disorder

28770003Polycystic kidney disease, infantile type disorder

702347001Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy disorder

1260449002Polyendocrine polyneuropathy syndrome disorder

11244009Polyglandular autoimmune syndrome, type 1 disorder

774148007Polyglucosan body myopathy type 1 disorder

1228849007Polyglucosan body myopathy type 2 disorder

1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder

771336003Polymicrogyria with optic nerve hypoplasia disorder

724066002Polysyndactyly and cardiac malformation syndrome disorder

773627004Porencephaly, microcephaly, bilateral congenital cataract syndrome disorder

64081000Porphobilinogen synthase deficiency disorder

773279006Postaxial polydactyly, dental, vertebral anomalies syndrome disorder

733088002Preaxial polydactyly, colobomata, intellectual disability syndrome disorder

1186719000Predisposition to invasive fungal disease due to CARD9 deficiency disorder

1269234000Predisposition to severe viral infection due to IRF7 deficiency disorder

1172689007Prenatal-onset spinal muscular atrophy with congenital bone fractures disorder

778027003Primary CD59 deficiency disorder

1220573009Primary dystonia DYT27 type disorder

719275009Primary hypergonadotropic hypogonadism and partial alopecia syndrome disorder

17901006Primary hyperoxaluria disorder

718717004Primary immunodeficiency syndrome due to p14 deficiency disorder

1197478005Primary immunodeficiency with multifaceted aberrant lymphoid immunity disorder

724275005Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency disorder

783245001Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection disorder

764100007Primary intraosseous venous malformation disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

782755007Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome disorder

1279844009Primary triglyceride deposit cardiomyovasculopathy disorder

1216939003Progeroid features, hepatocellular carcinoma predisposition syndrome disorder

1237413006Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome disorder

719267003Progressive cavitating leucoencephalopathy disorder

230240004Progressive cerebellar ataxia with hypogonadism disorder

1208481000Progressive cerebello-cerebral atrophy disorder

715529009Progressive deafness with stapes fixation disorder

770678005Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome disorder

1260130005Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

74162007Progressive intrahepatic cholestasis disorder

1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome disorder

783064000Progressive myoclonic epilepsy type 3 disorder

783062001Progressive myoclonic epilepsy type 6 disorder

783139000Progressive myoclonic epilepsy type 8 disorder

1228857005Progressive myoclonic epilepsy type 9 disorder

763349002Progressive myoclonic epilepsy with dystonia disorder

702326000Progressive myoclonus epilepsy with ataxia disorder

771305006Progressive polyneuropathy with bilateral striatal necrosis disorder

773576000Progressive retinal dystrophy due to retinol transport defect disorder

1187303004Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome disorder

61071003Proline dehydrogenase deficiency disorder

69080001Propionic acidaemia disorder

770722002Proximal myopathy with extrapyramidal signs disorder

254058002Pseudodiastrophic dysplasia disorder

91180009Pseudohypoaldosteronism, type 1, recessive form disorder

733086003Pseudoprogeria syndrome disorder

1187043002Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome disorder

724039002Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency disorder

724016008Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome disorder

721887007Puerto Rican infant hypotonia syndrome disorder

60743005Purine-nucleoside phosphorylase deficiency disorder

719258003Pyknoachondrogenesis disorder

89647000Pyknodysostosis disorder

27837003Pyle metaphyseal dysplasia disorder

718232007Pyogenic bacterial infection due to MyD88 deficiency disorder

734434007Pyridoxine-dependent developmental and epileptic encephalopathy disorder

87694001Pyruvate carboxylase deficiency disorder

1197430005QRSL1-related combined oxidative phosphorylation defect disorder

772225005RAB18 deficiency disorder

702413000RAPADILINO syndrome disorder

1220600004RARS-related autosomal recessive hypomyelinating leucodystrophy disorder

783099001RIDDLE syndrome disorder

712637001RNA polymerase III-related leucodystrophy disorder

389239007Raine dysplasia disorder

724002003Rambaud Gallian syndrome disorder

715471007Reardon Hall Slaney syndrome disorder

723500009Recessive aplasia cutis congenita of limbs disorder

48528004Recessive dystrophic epidermolysis bullosa disorder

782696001Recessive mitochondrial ataxia syndrome disorder

783007005Recurrent Neisseria infection due to factor D deficiency disorder

1172698005Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome disorder

1237412001Regressive spondylometaphyseal dysplasia disorder

763891005Renal hepatic pancreatic dysplasia disorder

236532003Renal tubular acidosis with progressive nerve deafness disorder

717053007Renal tubulopathy with encephalopathy and liver failure syndrome disorder

1260241001Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta disorder

764452004Retinal arterial macroaneurysm with supravalvular pulmonic stenosis disorder

723503006Retinal degeneration, nanophthalmos, glaucoma syndrome disorder

703542000Retinal detachment and occipital encephalocoele disorder

715562001Retinitis punctata albescens disorder

724000006Retinohepatoendocrinologic syndrome disorder

770948004Rhizomelic syndrome Urbach type disorder

715415005Richards-Rundle syndrome disorder

782941005Richieri Costa-da Silva syndrome disorder

48718006Roberts-SC phocomelia syndrome disorder

1231737000Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome disorder

95243004Rolland-Debuqois syndrome disorder

1003922004Rothmund Thomson syndrome type 1 disorder

1003923009Rothmund Thomson syndrome type 2 disorder

723720008SERKAL syndrome disorder

1187171005SLC39A8 congenital disorder of glycosylation disorder

49748000SSADH (succinic semialdehyde dehydrogenase) deficiency disorder

774150004Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome disorder

716094008Saito Kuba Tsuruta syndrome disorder

254092004Saldino-Mainzer dysplasia disorder

88393000Sanfilippo syndrome disorder

1197148005Sanjad Sakati syndrome disorder

64852002Sarcosine dehydrogenase deficiency disorder

723995003Schimke immuno-osseous dysplasia disorder

715522000Schinzel phocomelia syndrome disorder

29145002Schwartz-Jampel syndrome disorder

57917004Seckel syndrome disorder

721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome disorder

723994004Seizures and intellectual disability due to hydroxylysinuria disorder

1187250005Seizures, scoliosis, macrocephaly syndrome disorder

234363001Selective malabsorption of cyanocobalamin disorder

700489002Sensorineural deafness and male infertility disorder

717266001Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome disorder

1187614006Severe autosomal recessive macrothrombocytopenia disorder

277373000Severe childhood autosomal recessive muscular dystrophy disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

716663009Severe early childhood onset retinal dystrophy disorder

766977007Severe early-onset axonal neuropathy due to mitofusin 2 deficiency disorder

1228876007Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency disorder

1172629005Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

1208727002Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome disorder

723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder

1197591008Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome disorder

773419004Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome disorder

770751003Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

773423007Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency disorder

773555005Severe neurodegenerative syndrome with lipodystrophy disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

1237339005Severe primary trimethylaminuria disorder

15991002Severe steroid 21-hydroxylase deficiency disorder

205484001Short rib polydactyly syndrome disorder

721074002Short stature due to primary acid labile subunit deficiency disorder

763890006Short stature with delayed bone age due to thyroid hormone metabolism deficiency disorder

723998001Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome disorder

774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

1237512003Short stature, developmental delay, congenital heart defect syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

1237618009Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome disorder

726672000Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome disorder

773556006Short ulna, dysmorphism, hypotonia, intellectual disability syndrome disorder

38795005Sialidosis disorder

721076000Siegler Brewer Carey syndrome disorder

770784003Sinoatrial node dysfunction and deafness disorder

65419005Sitosterolaemia with xanthomatosis disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

715862006Smith McCort dysplasia disorder

715987000Sonoda syndrome disorder

1237418002Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome disorder

763351003Spectrin-associated autosomal recessive cerebellar ataxia disorder

58459009Sphingomyelin/cholesterol lipidosis disorder

703524005Spinal muscular atrophy with progressive myoclonic epilepsy disorder

733033001Spinocerebellar ataxia dysmorphism syndrome disorder

765091006Spinocerebellar ataxia with axonal neuropathy type 1 disorder

723611008Split hand, split foot malformation with sensorineural hearing loss syndrome disorder

1172635005Split-foot malformation, mesoaxial polydactyly syndrome disorder

773693005Spondylo-megaepiphyseal-metaphyseal dysplasia disorder

715653007Spondylo-ocular syndrome disorder

702351004Spondylocarpotarsal synostosis syndrome disorder

723610009Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome disorder

254079002Spondyloenchondrodysplasia disorder

389268008Spondyloenchondromatosis disorder

773303005Spondyloepimetaphyseal dysplasia Genevieve type disorder

717330004Spondyloepimetaphyseal dysplasia Irapa type disorder

719172003Spondyloepimetaphyseal dysplasia PAPSS2 type disorder

719201004Spondyloepimetaphyseal dysplasia Shohat type disorder

719165004Spondyloepimetaphyseal dysplasia aggrecan type disorder

764460003Spondyloepimetaphyseal dysplasia anauxetic type disorder

719166003Spondyloepimetaphyseal dysplasia matrilin-3 type disorder

1286833006Spondyloepimetaphyseal dysplasia with joint laxity Beighton type disorder

1286834000Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type disorder

773302000Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome disorder

766821006Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome disorder

719202006Spondyloepiphyseal dysplasia tarda Kohn type disorder

702400006Spondyloepiphyseal dysplasia with congenital joint dislocations disorder

718766002Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome disorder

1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome disorder

782912001Spondylometaphyseal dysplasia A4 type disorder

719205008Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome disorder

782913006Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome disorder

1269226006Spondylometaphyseal dysplasia, corneal dystrophy syndrome disorder

80544005Spongy degeneration of central nervous system disorder

1197589000Steel syndrome disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

723583009Steroid dehydrogenase deficiency and dental anomaly syndrome disorder

1010666007Stickler syndrome type 4 disorder

733072002Stimmler syndrome disorder

1187120008Stromme syndrome disorder

783096008Subaortic stenosis and short stature syndrome disorder

78373000Sucrase-isomaltase deficiency disorder

711157000Sudden infant death with dysgenesis of testes syndrome disorder

1187132007Sugarman brachydactyly disorder

40873003Sulphite oxidase deficiency syndrome disorder

1197415001Susceptibility to infection due to TYK2 deficiency disorder

1197482007Susceptibility to localised juvenile periodontitis disorder

766983005Susceptibility to respiratory infection associated with CD8alpha chain mutation disorder

778045003Susceptibility to viral and mycobacterial infection disorder

783553008Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome disorder

237770005Syndrome of apparent mineralocorticoid excess disorder

1222709003Syndromic congenital sodium diarrhoea disorder

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

1260133007Syndromic sensorineural deafness due to combined oxidative phosphorylation defect disorder

770785002T-cell immunodeficiency with epidermodysplasia verruciformis disorder

782750002T-cell receptor alpha-beta-positive T-cell deficiency disorder

1172628002TBCK-related intellectual disability syndrome disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

773554009THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome disorder

1208738002TMEM199 congenital disorder of glycosylation disorder

718212006TMEM70 related mitochondrial encephalo-cardio-myopathy disorder

1222708006TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome disorder

1169359006Tall stature, intellectual disability, renal anomalies syndrome disorder

723580007Talo-patello-scaphoid osteolysis syndrome disorder

723579009Tangier disease disorder

719945007Taurodontia with absent teeth and sparse hair syndrome disorder

111385000Tay-Sachs disease disorder

771265006Teebi Shaltout syndrome disorder

719946008Tel Hashomer camptodactyly syndrome disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

719947004Temtamy syndrome disorder

702313004Tetra-amelia syndrome disorder

68724006Tetrahydrobiopterin synthesis defect disorder

773281008Thakker Donnai syndrome disorder

723557004Thiamine-responsive encephalopathy disorder

716740009Thomas syndrome disorder

782951006Thoracic dysplasia and hydrocephalus syndrome disorder

783003009Thoracomelic dysplasia disorder

723555007Thymic, renal, anal, lung dysplasia syndrome disorder

733096007Thyrocerebrorenal syndrome disorder

722477003Toriello Carey syndrome disorder

204745000Total intestinal aganglionosis disorder

237934001Transcobalamin II deficiency disorder

773649005Transient infantile hypertriglyceridaemia and hepatosteatosis disorder

703406006Trichohepatoenteric syndrome disorder

766813000Trichoodontoonychial dysplasia disorder

723551003Trichothiodystrophy disorder

61778004Tumoural calcinosis disorder

716239006Tungland Bellman syndrome disorder

1255271005Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome disorder

1003444000Type 3 lissencephaly disorder

410056006Tyrosinaemia type 1 disorder

4887000Tyrosinaemia type 2 disorder

415764005Tyrosinaemia type III disorder

1251449006USP18 deficiency disorder

719840003Ulbright Hodes syndrome disorder

698253007Ultraviolet sensitive syndrome disorder

716110002Upper limb defect with eye and ear abnormalities syndrome disorder

373420004Upshaw-Schulman syndrome disorder

716334004Urban Rogers Meyer syndrome disorder

60952007Urocanate hydratase deficiency disorder

719043002VACTERL syndrome with hydrocephalus disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder

719845008Van den Ende-Gupta syndrome disorder

447351004Vanishing white matter disease disorder

770687001Vasculitis due to adenosine deaminase 2 deficiency disorder

716195006Verloes Bourguignon syndrome disorder

719824001Vici syndrome disorder

719833004Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome disorder

1260128008WARS2-related combined oxidative phosphorylation defect disorder

111504002Walker-Warburg congenital muscular dystrophy disorder

702829000Warsaw breakage syndrome disorder

726670008Weaver Williams syndrome disorder

64383006Werdnig-Hoffmann disease disorder

51626007Werner syndrome disorder

763619009White forelock with malformations syndrome disorder

88518009Wilson's disease disorder

70694009Wolfram syndrome disorder

816067005Woodhouse Sakati syndrome disorder

238875009Wrinkly skin syndrome disorder

1162839003XK aprosencephaly syndrome disorder

733605002XY type gonadal dysgenesis with associated anomalies syndrome disorder

773418007XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation disorder

44600005Xeroderma pigmentosum disorder

773307006Zechi Ceide syndrome disorder

718880003Zellweger-like syndrome without peroxisomal anomaly disorder

716248001Zlotogora Ogur syndrome disorder

Autosomal recessive hereditary disorder

Synonyms

Parents (1)

Children (1504)