Autosomal dominant hereditary disorder

Code	`11164009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

77079400811p15.4 microduplication syndrome disorder

123483000514q32 duplication syndrome disorder

71958300217q11.2 microduplication syndrome disorder

89011000417q23.1-q23.2 duplication syndrome disorder

7707560082p13.2 microdeletion syndrome disorder

13679000043q26q28 deletion syndrome disorder

7164560003q29 microdeletion syndrome disorder

7241470048q13 microdeletion syndrome disorder

12298950088q24.3 microdeletion syndrome disorder

720464003ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome disorder

783160006AGel amyloidosis disorder

774068004AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome None

1197746001AKT2-related familial partial lipodystrophy disorder

1367882008AXIN2-related attenuated familial adenomatous polyposis disorder

718576001Aase Smith type 1 syndrome disorder

71988008Aase syndrome disorder

718575002Ablepharon macrostomia syndrome disorder

719595002Absence of fingerprints with congenital milia syndrome disorder

86268005Achondroplasia disorder

205258009Acrocephalosyndactyly type I disorder

70410008Acrocephalosyndactyly type V disorder

66758006Acrodysostosis disorder

400085009Acrokeratosis verruciformis of Hopf disorder

720456009Acromegaloid facial appearance syndrome disorder

254090007Acromicric dysplasia disorder

776417008Acroosteolysis, keloid-like lesions, premature ageing syndrome disorder

720412009Acropectoral syndrome disorder

720457000Acropectorovertebral dysplasia disorder

720415006Acrorenoocular syndrome disorder

711480000Activated PI3K-delta syndrome disorder

234422006Acute intermittent porphyria disorder

62009002Adult neuronal ceroid lipofuscinosis disorder

448054001Adult onset autosomal dominant leucodystrophy disorder

783242003Adult-onset cervical dystonia DYT23 type disorder

770792007Adult-onset distal myopathy due to valosin containing protein mutation disorder

403805009Albinism-deafness syndrome of Tietz disorder

720980004Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome disorder

783770002Alpha-B crystallin-related late-onset myopathy disorder

717766000Alport syndrome autosomal dominant disorder

715404000Amelo-onycho-hypohidrotic syndrome disorder

234961008Amelogenesis imperfecta - hypoplastic autosomal dominant - local disorder

234963006Amelogenesis imperfecta - hypoplastic autosomal dominant - rough disorder

234962001Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth disorder

1208412003Amyotrophic lateral sclerosis type 10 disorder

1201950008Amyotrophic lateral sclerosis type 3 disorder

784341001Amyotrophic lateral sclerosis type 4 disorder

1204350002Amyotrophic lateral sclerosis type 8 disorder

1204351003Amyotrophic lateral sclerosis type 9 disorder

422348008Andersen Tawil syndrome disorder

785808002Aneurysm osteoarthritis syndrome disorder

720984008Angel-shaped phalangoepiphyseal dysplasia disorder

1354646005Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation disorder

1366698006Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation disorder

720467005Aniridia and absent patella syndrome disorder

720468000Aniridia and intellectual disability syndrome disorder

720987001Aniridia, ptosis, intellectual disability, familial obesity syndrome disorder

720492008Ankylosing vertebral hyperostosis with tylosis syndrome disorder

764457005Ankyrin-B syndrome disorder

784351000Antecubital pterygium syndrome disorder

763615003Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome disorder

720498007Aphalangy and syndactyly with microcephaly syndrome disorder

715656004Aplasia of lacrimal and salivary gland disorder

31742004Arteriohepatic dysplasia disorder

55711009Arthrochalasia Ehlers-Danlos syndrome disorder

1345055005Asymmetric crying facies syndrome disorder

768556005Ataxia pancytopenia syndrome disorder

725145002Atrial septal defect, atrioventricular conduction defect syndrome disorder

702443003Auriculo-condylar syndrome disorder

771512003Autism spectrum disorder due to AUTS2 deficiency disorder

722288007Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome disorder

1222679006Autoimmune interstitial lung disease, arthritis syndrome disorder

1197361002Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency disorder

778004006Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation disorder

1156789004Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein disorder

1156800008Autosomal dominant Alzheimer disease due to mutation of presenilin 1 disorder

1156798001Autosomal dominant Alzheimer disease due to mutation of presenilin 2 disorder

1156835005Autosomal dominant Charcot-Marie-Tooth disease type 2 disorder

1010712009Autosomal dominant Emery-Dreifuss muscular dystrophy disorder

890233009Autosomal dominant Robinow syndrome disorder

1351235001Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect disorder

784391002Autosomal dominant adult-onset proximal spinal muscular atrophy disorder

1351668001Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency disorder

1351647002Autosomal dominant agammaglobulinaemia due to PU.1 deficiency disorder

1197523001Autosomal dominant amyotrophic lateral sclerosis type 1 disorder

778006008Autosomal dominant aplasia and myelodysplasia disorder

722292000Autosomal dominant beta2-microglobulinic amyloidosis disorder

717264003Autosomal dominant brachyolmia disorder

1201861004Autosomal dominant central core disease disorder

716696006Autosomal dominant centronuclear myopathy disorder

1156796002Autosomal dominant cerebellar ataxia type 2 disorder

722293005Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome disorder

1350218008Autosomal dominant combined immunodeficiency due to Aiolos deficiency disorder

1351324009Autosomal dominant combined immunodeficiency due to ERBIN deficiency disorder

1351779004Autosomal dominant combined immunodeficiency due to STAT5b mutation disorder

1351325005Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency disorder

1354420003Autosomal dominant combined variable immunodeficiency due to IRF2BP2 mutation disorder

1354416002Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation disorder

1354480001Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation disorder

1352026003Autosomal dominant combined variable immunodeficiency due to TWEAK mutation disorder

1208415001Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder

1202024009Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation disorder

1208418004Autosomal dominant congenital fibre-type disproportion myopathy due to TPM3 mutation disorder

312921000Autosomal dominant cystoid macular oedema disorder

1208614008Autosomal dominant deafness with onychodystrophy syndrome disorder

95842004Autosomal dominant deficiency of plasminogen disorder

716105001Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type disorder

1156837002Autosomal dominant distal hereditary motor neuropathy disorder

715768000Autosomal dominant dopa responsive dystonia disorder

707273001Autosomal dominant dyskeratosis congenita disorder

398170002Autosomal dominant epidermolysis bullosa simplex disorder

66185005Autosomal dominant excess of transthyretin disorder

403794008Autosomal dominant familial woolly hair disorder

719516000Autosomal dominant focal dystonia DYT25 type disorder

783136007Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering disorder

1231284001Autosomal dominant generalised dystrophic epidermolysis bullosa disorder

737227004Autosomal dominant hereditary spastic paraplegia disorder

1296914004Autosomal dominant hereditary vasopressin deficiency disorder

1351326006Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency disorder

1351570003Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency disorder

717045004Autosomal dominant hyperinsulinism due to Kir6.2 deficiency disorder

717046003Autosomal dominant hyperinsulinism due to SUR1 deficiency disorder

711152006Autosomal dominant hypocalcaemia disorder

7731005Autosomal dominant hypohidrotic ectodermal dysplasia syndrome disorder

237890006Autosomal dominant hypophosphataemic bone disease disorder

402770002Autosomal dominant ichthyosis disorder

230319002Autosomal dominant idiopathic familial dystonia disorder

765744006Autosomal dominant intermediate Charcot-Marie-Tooth disease type A disorder

765745007Autosomal dominant intermediate Charcot-Marie-Tooth disease type B disorder

765746008Autosomal dominant intermediate Charcot-Marie-Tooth disease type C disorder

765747004Autosomal dominant intermediate Charcot-Marie-Tooth disease type D disorder

722294004Autosomal dominant intermediate Charcot-Marie-Tooth disease type E disorder

770759001Autosomal dominant intermediate Charcot-Marie-Tooth disease type F disorder

778003000Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain disorder

715339004Autosomal dominant keratitis disorder

716662004Autosomal dominant late onset Parkinson disease disorder

230313001Autosomal dominant late onset basal ganglia degeneration disorder

719431007Autosomal dominant late-onset retinal degeneration disorder

720521008Autosomal dominant macrothrombocytopenia disorder

778069004Autosomal dominant mandibular prognathism disorder

725150008Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency disorder

725151007Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency disorder

1222644009Autosomal dominant mitochondrial myopathy with exercise intolerance disorder

771269000Autosomal dominant multiple pterygium syndrome disorder

240075007Autosomal dominant muscular dystrophy not predominantly limb girdle disorder

240067001Autosomal dominant muscular dystrophy with limb girdle distribution disorder

725903003Autosomal dominant myoglobinuria disorder

1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome disorder

770791000Autosomal dominant neovascular inflammatory vitreoretinopathy disorder

725165009Autosomal dominant omodysplasia disorder

1264041000Autosomal dominant osteopetrosis type 1 disorder

725050005Autosomal dominant osteopetrosis type 2 disorder

719518004Autosomal dominant palmoplantar keratoderma and congenital alopecia disorder

765330003Autosomal dominant polycystic kidney disease disorder

718222000Autosomal dominant popliteal pterygium syndrome disorder

1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome disorder

1370959009Autosomal dominant predisposition to severe viral infection due to TLR3 deficiency disorder

1371051000Autosomal dominant predisposition to severe viral infection due to TRAF3 deficiency disorder

725393000Autosomal dominant primary hypomagnesaemia with hypocalciuria disorder

778070003Autosomal dominant primary microcephaly disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

703310005Autosomal dominant progressive nephropathy with hypertension disorder

403811007Autosomal dominant pseudoxanthoma elasticum disorder

716197003Autosomal dominant pterygium of conjunctiva disorder

232052009Autosomal dominant retinitis pigmentosa disorder

773727009Autosomal dominant rhegmatogenous retinal detachment disorder

783202008Autosomal dominant secondary polycythaemia disorder

230553002Autosomal dominant sensory neuropathy disorder

770947009Autosomal dominant severe congenital neutropaenia disorder

1148914007Autosomal dominant sideroblastic anaemia disorder

764854006Autosomal dominant slowed nerve conduction velocity disorder

784380009Autosomal dominant spastic ataxia type 1 disorder

716232002Autosomal dominant spondylocostal dysostosis disorder

725392005Autosomal dominant striatal neurodegeneration disorder

1371053002Autosomal dominant thrombocytopenia due to ETV6 gene mutation disorder

1187252002Autosomal dominant thrombocytopenia with platelet secretion defect disorder

726018006Autosomal dominant tubulointerstitial kidney disease disorder

21367009Autosomal dominant variant form of albumin disorder

1296908006Autosomal dominant vasopressin resistance disorder

711162004Autosomal dominant vitreoretinochoroidopathy disorder

204152008Axenfeld anomaly disorder

1230295000B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome disorder

765057007BAP1 tumour predisposition syndrome disorder

1179300002BENTA disease disorder

722298001Ballard syndrome disorder

733093004Banki syndrome disorder

716994006Behavioural variant of frontotemporal dementia disorder

719520001Benign concentric annular macular dystrophy disorder

763387005Best vitelliform macular dystrophy disorder

718572004Bethlem myopathy disorder

1263460007Birt Hogg Dubé syndrome disorder

783194008Bleeding diathesis due to thromboxane synthesis deficiency disorder

717911008Blepharocheilodontic syndrome disorder

717915004Blepharoptosis, myopia, ectopia lentis syndrome disorder

717920004Blindness, scoliosis, arachnodactyly syndrome disorder

722296002Book syndrome disorder

720568003Brachydactyly and arterial hypertension syndrome disorder

732956000Brachydactyly and distal symphalangism syndrome disorder

732957009Brachydactyly and preaxial hallux varus syndrome disorder

715720006Brachydactyly type A1 disorder

720569006Brachydactyly type A2 disorder

890438002Brachydactyly type A3 disorder

715721005Brachydactyly type A4 disorder

720570007Brachydactyly type A5 disorder

715722003Brachydactyly type A6 disorder

770406002Brachydactyly type B2 disorder

890439005Brachydactyly type D disorder

720572004Brachydactyly with syndactyly Zhao type disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

720574003Brachytelephalangy, facial dysmorphism, Kallmann syndrome disorder

719098007Brain lung thyroid syndrome disorder

717944002Branchiogenic deafness syndrome disorder

449821007Branchiooculofacial syndrome disorder

764810000Branchiootic syndrome disorder

703531009Brooke-Spiegler syndrome disorder

418818005Brugada syndrome disorder

725590001Butterfly-shaped pigmentary macular dystrophy disorder

1336113009CADINS disease disorder

1332384001CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome disorder

1179408008CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome disorder

1332510002CHD4-related neurodevelopmental disorder disorder

702393003CHMP2B-related frontotemporal dementia disorder

1340172003CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome disorder

778060000COL4A1-related familial vascular leucoencephalopathy disorder

703532002Cap myopathy disorder

703533007Capillary malformation-arteriovenous malformation syndrome disorder

720605009Cardiac anomaly and heterotaxy syndrome disorder

1332387008Cardiac urogenital syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

722377004Carney Stratakis syndrome disorder

389272007Carpotarsal osteochondromatosis disorder

718851007Cataract glaucoma syndrome disorder

1197429000Cathepsin A-related arteriopathy, strokes, leucoencephalopathy disorder

711265009Caveolin 3 related distal myopathy disorder

18822004Centrofacial lentiginosis syndrome disorder

720634003Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome disorder

720855003Cerebrooculonasal syndrome disorder

703534001Char syndrome disorder

398040009Charcot-Marie-Tooth disease, type I disorder

838307002Childhood-onset autosomal dominant optic atrophy disorder

1172602000Childhood-onset benign chorea with striatal involvement disorder

1167373005Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder disorder

1197154006Childhood-onset nemaline myopathy disorder

232373003Choanal atresia with radial ray hypoplasia disorder

1281843005Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome disorder

1156471001Choroid plexus carcinoma disorder

785727000Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity disorder

783182004Chronic respiratory distress with surfactant metabolism deficiency disorder

1300132009Clark Baraitser syndrome disorder

719466009Cleft palate with short stature and vertebral anomaly syndrome disorder

763130006Cleft palate, large ears, small head syndrome disorder

65976001Cleidocranial dysostosis disorder

719471002Cleidorhizomelic syndrome disorder

715528001Cochleosaccular degeneration and cataract syndrome disorder

711154007Cole disease disorder

717785002Coloboma of macula with brachydactyly type B syndrome disorder

1179296003Colobomatous macrophthalmia with microcornea syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

1363572000Combined immunodeficiency due to FOXN1 haploinsufficiency disorder

1336027001Combined immunodeficiency due to RELA haploinsufficiency disorder

770626007Congenital Horner syndrome disorder

204138006Congenital blue dot cataract disorder

205821003Congenital contractural arachnodactyly disorder

719453009Congenital dyserythropoietic anaemia type IV disorder

26409005Congenital dyserythropoietic anaemia, type III disorder

1209168005Congenital fibre-type disproportion myopathy due to MYH7 mutation disorder

771272007Congenital muscular dystrophy due to LMNA mutation disorder

764945007Congenital myopathy with internal nuclei and atypical cores disorder

57938005Congenital myotonia, autosomal dominant form disorder

703504006Congenital reticular ichthyosiform erythroderma disorder

725101002Congenital short costocoracoid ligament disorder

702359002Congenital stromal corneal dystrophy disorder

720747002Cooks syndrome disorder

890350009Coralliform cataract disorder

773577009Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome disorder

784344009Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation disorder

720752007Coxopodopatellar syndrome disorder

783179009Cranio-cervical dystonia with laryngeal and upper limb involvement disorder

720754008Craniofacial conodysplasia syndrome disorder

702362004Craniofacial deafness hand syndrome disorder

720817008Craniosynostosis Boston type disorder

720818003Craniosynostosis Philadelphia type disorder

720813007Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome disorder

1269224009Craniosynostosis, microretrognathia, severe intellectual disability syndrome disorder

28861008Crouzon syndrome disorder

725096002Cryptomicrotia brachydactyly syndrome disorder

763686007Curly hair, acral keratoderma, caries syndrome disorder

413936007Currarino triad disorder

703528008Cutis gyrata syndrome of Beare and Stevenson disorder

111388003Cutis laxa, autosomal dominant disorder

732261005Cyprus facial neuromusculoskeletal syndrome disorder

720826006Czech dysplasia metatarsal type disorder

1172625004DDX41-related haematologic malignancy predisposition syndrome disorder

1172604004DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome disorder

702411003DICER1 syndrome disorder

783057002DNA2-related mitochondrial DNA deletion syndrome disorder

721082002Dacryocystitis and osteopoikilosis syndrome disorder

48611009Darier disease disorder

716245003Deafness craniofacial syndrome disorder

773664005Deficiency in anterior pituitary function, variable immunodeficiency syndrome disorder

715526002Dehydrated hereditary stomatocytosis disorder

68116008Dentatorubropallidoluysian degeneration disorder

109492001Dentin dysplasia disorder

196286005Dentinogenesis imperfecta disorder

721091003Dermo-odonto dysplasia disorder

770627003Desmin-related myofibrillar myopathy disorder

787093004Developmental delay, facial dysmorphism syndrome due to MED13L deficiency disorder

1380254000Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome disorder

1340176000Developmental delay, overweight, facial dysmorphism, behavioural abnormalities syndrome disorder

721092005Developmental malformation, deafness, dystonia syndrome disorder

34643004Diaphyseal dysplasia disorder

389216001Diaphyseal medullary stenosis with bone malignancy disorder

721096008Diffuse palmoplantar keratoderma and acrocyanosis syndrome disorder

778062008Diffuse palmoplantar keratoderma with painful fissures disorder

715314008Digitotalar dysmorphism disorder

763755009Dislocation of hip and facial dysmorphism syndrome disorder

1208482007Distal arthrogryposis type 10 disorder

897570002Distal arthrogryposis type 3 disorder

702383005Distal myopathy 2 disorder

726107008Distal myopathy Welander type disorder

733489002Distal myopathy with posterior leg and anterior hand involvement disorder

765196004Distal myotilinopathy disorder

8634009Distichiasis-lymphoedema syndrome disorder

86426007Dominant autosomal hereditary disorder, complete penetrance disorder

87006007Dominant autosomal hereditary disorder, incomplete penetrance disorder

716682000Dominant beta-thalassaemia disorder

193411004Dominant drusen disorder

2065009Dominant hereditary optic atrophy disorder

720598005Doughnut lesion of calvaria and bone fragility syndrome disorder

236385009Drash syndrome disorder

1230014007Duane retraction syndrome with congenital deafness disorder

205480005Dysplasia epiphysealis hemimelica disorder

1281844004Dystonia 28 disorder

782718007Dystonia aphonia syndrome disorder

722439009EDICT syndrome disorder

734018003Ectodermal dysplasia trichoodontoonychial type disorder

715576000Ectodermal dysplasia with natal teeth Turnpenny type disorder

771178004Edinburgh malformation syndrome disorder

733457006Ehlers-Danlos and osteogenesis imperfecta syndrome disorder

715318006Ehlers-Danlos syndrome classic type disorder

700057001Emberger syndrome disorder

773768000Emery Nelson syndrome disorder

718099006Enlarged parietal foramina disorder

1208480004Epibulbar lipodermoid, preauricular appendage, polythelia syndrome disorder

239071005Epidermolytic palmoplantar keratoderma of Vorner disorder

421455009Episodic ataxia disorder

715908008Epithelial recurrent erosion dystrophy disorder

763767006Erythema palmare hereditarium disorder

715830008Exercise-induced hyperinsulinism disorder

782937006Extensor tendons of finger anomalies disorder

783774006External auditory canal atresia, vertical talus, hypertelorism syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

1348303000F12-associated cold autoinflammatory syndrome disorder

778008009FGFR2-related bent bone dysplasia disorder

702450004FOXG1 syndrome disorder

1230310007FTH1-related iron overload disorder

763279007Facial dysmorphism, conductive hearing loss, heart defect syndrome disorder

1362024002Factor V short isoforms related bleeding disorder disorder

721219005Familial Alzheimer-like prion disease disorder

715807002Familial Creutzfeldt-Jakob disorder

725411000Familial Scheuermann disease disorder

723359002Familial acute necrotising encephalopathy disorder

717225001Familial adult myoclonic epilepsy disorder

715829003Familial advanced sleep phase syndrome disorder

15123008Familial amyloid nephropathy with urticaria AND deafness disorder

42295001Familial amyloid polyneuropathy disorder

71322004Familial articular hypermobility syndrome disorder

1197418004Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease disorder

715657008Familial avascular necrosis of femoral head disorder

79468000Familial benign pemphigus disorder

770435005Familial bicuspid aortic valve disorder

1162808000Familial calcium pyrophosphate dihydrate crystal deposition disease disorder

722493007Familial caudal dysgenesis disorder

1197365006Familial cavitary optic disc anomaly disorder

1220590003Familial chilblain lupus erythematosus disorder

726628003Familial chondromalacia of patella disorder

238687000Familial cold urticaria disorder

782679002Familial congenital palsy of trochlear nerve disorder

763770005Familial cortical myoclonus disorder

239139000Familial cutaneous collagenoma disorder

782823001Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome disorder

721220004Familial developmental dysphasia disorder

717192003Familial digital arthropathy and brachydactyly syndrome disorder

766883006Familial dilated cardiomyopathy with conduction defect due to LMNA mutation disorder

254219004Familial dyskeratotic comedones disorder

763352005Familial dyskinesia and facial myokymia disorder

702421006Familial encephalopathy with neuroserpin inclusion bodies disorder

784377008Familial epilepsy with auditory features disorder

782756008Familial episodic pain syndrome disorder

764522009Familial focal epilepsy with variable foci disorder

765195000Familial generalised lentiginosis disorder

1263445009Familial gigantiform cementoma of jaw disorder

95656000Familial hemiplegic migraine disorder

703231005Familial hyperaldosteronism disorder

763715007Familial hyperprolactinaemia disorder

15346004Familial hypoalphalipoproteinaemia disorder

237885008Familial hypocalciuric hypercalcaemia disorder

109447008Familial hypodontia disorder

82732003Familial hypokalaemic periodic paralysis disorder

715865008Familial isolated arrhythmogenic right ventricular dysplasia disorder

726708009Familial isolated congenital asplenia disorder

786037006Familial isolated hyperparathyroidism disorder

702375004Familial isolated pituitary adenoma disorder

46785007Familial juvenile hyperuricaemic nephropathy disorder

725295005Familial male-limited precocious puberty disorder

1279836009Familial multinodular goitre syndrome disorder

765202001Familial multiple benign meningioma disorder

1222705009Familial multiple discoid fibroma disorder

716743006Familial non-autoimmune autosomal dominant hyperthyroidism disorder

770900000Familial omphalocele syndrome with facial dysmorphism disorder

715899006Familial osteochondritis dissecans disorder

715439000Familial partial lipodystrophy Dunnigan type disorder

725035001Familial partial lipodystrophy Kobberling type disorder

1179298002Familial patent arterial duct disorder

725034002Familial platelet syndrome with predisposition to acute myelogenous leukaemia disorder

1162864000Familial porencephaly disorder

59229005Familial porphyria cutanea tarda disorder

763368004Familial progressive hyper and hypopigmentation disorder

715630006Familial progressive hyperpigmentation disorder

1172636006Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome disorder

725030006Familial scaphocephaly syndrome McGillivray type disorder

698021005Familial sleep-related hypermotor epilepsy disorder

715219001Familial spontaneous pneumothorax disorder

764965000Familial thoracic aortic aneurysm and aortic dissection disorder

763716008Familial vesicoureteral reflux disorder

1230303001Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease disorder

702431004Feingold syndrome disorder

1303911001Ferroportin disease disorder

818952002Fibronectin glomerulopathy disorder

720952001Fibular aplasia and ectrodactyly syndrome disorder

763718009Finnish upper limb onset distal myopathy disorder

773750003Flat face, microstomia, ear anomaly syndrome disorder

312214005Floating-Harbor syndrome disorder

789157007Focal facial dermal dysplasia type I disorder

764963007Focal palmoplantar and gingival keratoderma disorder

778051008Focal palmoplantar keratoderma with joint keratoses disorder

778042000Foveal hypoplasia with presenile cataract syndrome disorder

702429008Frontotemporal dementia with parkinsonism-17 disorder

1332358007Full schwannomatosis disorder

722450007GEMSS syndrome disorder

716024001GMS syndrome disorder

770431001GRIN2A developmental and epileptic encephalopathy disorder

1186730002Gabriele-de Vries syndrome disorder

771474005Gastric adenocarcinoma and proximal polyposis of stomach disorder

782946000Gastrocutaneous syndrome disorder

766928004Generalised basaloid follicular hamartoma syndrome disorder

715629001Generalised epilepsy and paroxysmal dyskinesia syndrome disorder

699688008Genetic epilepsy with febrile seizures plus disorder

702367005Genitopatellar syndrome disorder

1003427004Genochondromatosis type 1 disorder

725904009Genochondromatosis type 2 disorder

716008002Gingival fibromatosis and hypertrichosis syndrome disorder

722449007Gingival fibromatosis with progressive deafness syndrome disorder

1172630000Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome disorder

715644000Glomuvenous malformation disorder

445252005Glucose transporter protein type 1 deficiency syndrome disorder

715568002Gnathodiaphyseal dysplasia disorder

69408002Gorlin syndrome disorder

723827003Grant syndrome disorder

45283008Granular corneal dystrophy disorder

699861000Granulomatous inflammatory arthritis, dermatitis and uveitis, familial disorder

717286002Grayson Wilbrandt corneal dystrophy disorder

722452004Guttmacher syndrome disorder

702428000HANAC - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps disorder

765434008HIVEP2-related intellectual disability disorder

315058005HNPCC - hereditary nonpolyposis colon cancer disorder

44641000HNSHA due to triosephosphate isomerase deficiency disorder

1186724002HTRA1-related autosomal dominant cerebral small vessel disease disorder

719975002Haemochromatosis type 4 disorder

782880001Haemoglobinopathy Toms River disorder

5315003Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction disorder

702425002Hand-foot-genital syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

414380008Hawkinsinuria disorder

721014007Heart-hand syndrome Slovenian type disorder

8757006Hecht syndrome disorder

724384008Helicoid peripapillary chorioretinal degeneration disorder

733046006Hemifacial hyperplasia strabismus syndrome disorder

1354544003Hereditary ATTR amyloidosis disorder

234619000Hereditary C1 esterase inhibitor deficiency - deficient factor disorder

234620006Hereditary C1 esterase inhibitor deficiency - dysfunctional factor disorder

427167008Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity disorder

439699000Hereditary antithrombin III deficiency disorder

205583005Hereditary benign acanthosis nigricans disorder

400014002Hereditary benign intraepithelial dyskeratosis disorder

718220008Hereditary breast and ovarian cancer syndrome disorder

238855000Hereditary camptodactyly disorder

717003001Hereditary cavernous haemangioma of brain disorder

724357007Hereditary cerebral haemorrhage with amyloidosis disorder

716859000Hereditary diffuse carcinoma of stomach disorder

702427005Hereditary diffuse leucoencephalopathy with spheroids disorder

1254945005Hereditary distal onycholysis disorder

75443009Hereditary elliptocytosis due to abnormal protein 4.1 disorder

8857001Hereditary elliptocytosis due to alpha spectrin defect disorder

73073009Hereditary elliptocytosis due to beta spectrin defect in self-association disorder

5994005Hereditary elliptocytosis due to deficiency of protein 4.1 disorder

771306007Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome disorder

718103001Hereditary geniospasm disorder

63684002Hereditary hollow viscus myopathy disorder

726079008Hereditary hypercarotenaemia and vitamin A deficiency disorder

717256009Hereditary hypotrichosis simplex of scalp disorder

770786001Hereditary inclusion body myopathy type 4 disorder

724349009Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome disorder

716774008Hereditary keratoacanthoma disorder

1162799008Hereditary leiomyomatosis and renal cell carcinoma disorder

400211001Hereditary lymphoedema and yellow nails disorder

399889006Hereditary lymphoedema type I disorder

400040008Hereditary lymphoedema type II disorder

787410005Hereditary mixed polyposis syndrome disorder

715665006Hereditary motor and sensory neuropathy Okinawa type disorder

771143004Hereditary motor and sensory neuropathy type 5 disorder

702373006Hereditary myopathy with early respiratory failure disorder

403775003Hereditary neurocutaneous angiomata disorder

43532007Hereditary oculoleptomeningeal amyloid angiopathy disorder

1187119002Hereditary paediatric Behçet-like disease disorder

715561008Hereditary papillary renal cell carcinoma disorder

716697002Hereditary persistence of alpha-fetoprotein disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

716857003Hereditary phaeochromocytoma and paraganglioma disorder

771300001Hereditary progressive mucinous histiocytosis disorder

1371021006Hereditary retinoblastoma disorder

782881002Hereditary sensorimotor neuropathy with hyperelastic skin disorder

717825008Hereditary sensory and autonomic neuropathy type 1B disorder

783550006Hereditary sensory and autonomic neuropathy type 7 disorder

860813007Hereditary sensory autonomic neuropathy type IA disorder

860814001Hereditary sensory autonomic neuropathy type IC disorder

860811009Hereditary sensory autonomic neuropathy type ID disorder

860812002Hereditary sensory autonomic neuropathy type IE disorder

14087004Hereditary stomatocytosis disorder

715645004Hereditary thermosensitive neuropathy disorder

1172699002Hereditary thrombocytopenia with early-onset myelofibrosis disorder

783250007Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency disorder

128106003Hereditary von Willebrand disease type 1 disorder

359717002Hereditary von Willebrand disease type 2B disorder

359725000Hereditary von Willebrand disease type 2M disorder

1288023007Hereditary well-differentiated neuroendocrine tumour of small intestine disorder

697899000Heritable pulmonary arterial hypertension due to BMPR2 mutation disorder

771239007Hidrotic ectodermal dysplasia Christianson Fourie type disorder

54209007Hidrotic ectodermal dysplasia syndrome disorder

782781006High bone mass osteogenesis imperfecta disorder

721148005Hip dysplasia Beukes type disorder

19092004Holt-Oram syndrome disorder

721227001Hunter McAlpine craniosynostosis syndrome disorder

784371009Huntington disease-like 1 disorder

721228006Huntington disease-like 2 disorder

782743001Huntington disease-like syndrome due to C9ORF72 expansions disorder

58756001Huntington's chorea disorder

36524008Hyaline dystrophy of Bruch's membrane disorder

702398007Hyperferritinemia cataract syndrome disorder

718106009Hyperinsulinism and hyperammonaemia syndrome disorder

721234004Hyperinsulinism due to HNF1A deficiency disorder

717048002Hyperinsulinism due to HNF4A deficiency disorder

717182006Hyperinsulinism due to deficiency of glucokinase disorder

721235003Hyperinsulinism due to insulin receptor deficiency disorder

721834007Hyperinsulinism due to uncoupling protein 2 deficiency disorder

1217210001Hyperostosis cranialis interna disorder

702378002Hyperparathyroidism-jaw tumour syndrome disorder

237613005Hyperproinsulinaemia disorder

724284005Hypertelorism Teebi type disorder

773667003Hypertelorism, preauricular sinus, punctual pits, deafness syndrome disorder

766937004Hypertension due to gain-of-function mutation in mineralocorticoid receptor disorder

771181009Hypertrichosis cubiti disorder

721840000Hyperuricaemia, anaemia, renal failure syndrome disorder

771339005Hyperzincaemia and hypercalprotectinaemia disorder

239021007Hypodontia and nail dysgenesis disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

773666007Hypoinsulinemic hypoglycaemia and body hemihypertrophy disorder

724283004Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum disorder

724282009Hypoparathyroidism, deafness, renal disease syndrome disorder

716741008Hypoplastic tibia and postaxial polydactyly syndrome disorder

783555001Hypotrichosis and deafness syndrome disorder

1187126002ITM2B-related amyloidosis disorder

703544004Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia disorder

1217371005Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome disorder

725905005Infundibulopelvic stenosis multicystic kidney syndrome disorder

1217382002Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome disorder

726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome disorder

773581009Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome disorder

1197593006Intellectual disability, expressive aphasia, facial dysmorphism syndrome disorder

782736007Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency disorder

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome disorder

1222677008Interstitial lung disease due to surfactant protein C deficiency disorder

702384004Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome disorder

1197592001Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome disorder

1345054009Isolated asymmetric crying facies disorder

722008003Isolated autosomal dominant hypomagnesaemia Glaudemans type disorder

1365977003Isolated childhood apraxia of speech disorder

763748007Isolated congenital adermatoglyphia disorder

718691008Isolated cryptophthalmos disorder

1367660004Isolated familial medullary thyroid carcinoma disorder

1260463008Isolated focal non-epidermolytic palmoplantar keratoderma disorder

1231182008Isolated osteopoikilosis disorder

709105005Jackson-Weiss syndrome disorder

721584005Johnson neuroectodermal syndrome disorder

722457005Juvenile cataract, microcornea, renal glucosuria syndrome disorder

9273005Juvenile polyposis syndrome disorder

711156009KBG syndrome disorder

778001003KCNQ2 developmental and epileptic encephalopathy disorder

763776004KLHL9-related early-onset distal myopathy disorder

1222645005KRT1-related diffuse nonepidermolytic keratoderma disorder

722032005Karsch Neugebauer syndrome disorder

716112005Kawashima Tsuji syndrome disorder

1220589007Keppen Lubinsky syndrome disorder

1336030008Keratitis fugax hereditaria disorder

764957003King Denborough syndrome disorder

724207001Kleefstra syndrome disorder

53974002Kniest dysplasia disorder

1271009Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome disorder

717338006Koolen De Vries syndrome disorder

111304003Kozlowski spondylometaphyseal dysplasia disorder

1217370006LAMA5-related multisystemic syndrome disorder

773426004LMNA-related cardiocutaneous progeria syndrome disorder

764859001Laing early-onset distal myopathy disorder

63387002Larsen syndrome disorder

770558006Late-onset distal myopathy Markesbery Griggs type disorder

361199007Lattice corneal dystrophy disorder

703541007Legius syndrome disorder

17818006Leri-Weill dyschondrosteosis disorder

773700005Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome disorder

428850001Li-Fraumeni syndrome disorder

764437006Liebenberg syndrome disorder

721972001Limb mammary syndrome disorder

718759003Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation disorder

1208881008Long QT syndrome type 11 disorder

1208909006Long QT syndrome type 6 disorder

1208911002Long QT syndrome type 9 disorder

733454004Long thumb brachydactyly syndrome disorder

783618006Lower motor neuron syndrome with late-adult onset disorder

721974000Lowry MacLean syndrome disorder

721979005Lymphoedema and cerebral arteriovenous anomaly syndrome disorder

716318002Lynch syndrome disorder

1234831009MIRAGE syndrome disorder

783089006Macrocephaly, intellectual disability, autism syndrome disorder

1187304005Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

1172685001Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome disorder

213026003Malignant hyperthermia caused by anaesthetic disorder

718679004Mammary digital nail syndrome disorder

773406003Mandibular hypoplasia, deafness, progeroid syndrome disorder

19346006Marfan's syndrome disorder

254234005Marie Unna syndrome disorder

73284007Marshall-Smith syndrome disorder

1187639002Martinique crinkled retinal pigment epitheliopathy disorder

773549000Maternal riboflavin deficiency disorder

609562003Maturity onset diabetes of the young, type 1 disorder

237604008Maturity onset diabetes of the young, type 2 disorder

609577006Maturity-onset diabetes of the young, type 10 disorder

609578001Maturity-onset diabetes of the young, type 11 disorder

609570008Maturity-onset diabetes of the young, type 3 disorder

609572000Maturity-onset diabetes of the young, type 5 disorder

609575003Maturity-onset diabetes of the young, type 8 disorder

722034006Median nodule of upper lip disorder

1674008Meesman's corneal dystrophy disorder

717968005Melanoma and neural system tumour syndrome disorder

290006Melnick-Fraser syndrome disorder

1197053003Melorheostosis with osteopoikilosis disorder

723385003Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency disorder

723386002Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency disorder

719397009Mesomelic dysplasia Kantaputra type disorder

766715000Metabolic myopathy due to lactate transporter defect disorder

205481009Metachondromatosis disorder

717221005Metaphyseal dysplasia Braun Tinschert type disorder

724145007Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome disorder

733604003Microcephalus, lymphoedema, chorioretinopathy syndrome disorder

1167375003Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome disorder

1254650002Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome disorder

1279889005Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome disorder

716166002Microcornea with glaucoma and absent frontal sinus syndrome disorder

771342004Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome disorder

1187114007Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome disorder

721878003Microphthalmia with brain and digit anomaly disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

724139004Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome disorder

715670004Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis disorder

715440003Mirror hands and feet co-occurrent with nasal defect disorder

1300194008Mitchell syndrome disorder

766987006Moebius syndrome disorder

719843001Morava Mehes syndrome disorder

703535000Mowat-Wilson syndrome disorder

787407003Muenke syndrome disorder

253828000Mullerian aplasia disorder

716111003Mullerian duct and limb anomalies syndrome disorder

766992008Multicentric carpotarsal osteolysis syndrome disorder

723408004Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus disorder

254044004Multiple congenital exostosis disorder

61808009Multiple endocrine neoplasia, type 2 disorder

61530001Multiple endocrine neoplasia, type 2b disorder

719689005Multiple epiphyseal dysplasia Beighton type disorder

766717008Multiple epiphyseal dysplasia due to collagen 9 anomaly disorder

715673002Multiple epiphyseal dysplasia type 1 disorder

715674008Multiple epiphyseal dysplasia type 5 disorder

111306001Multiple lentigines syndrome disorder

716742001Multiple osteochondroma disorder

782724001Multisystemic smooth muscle dysfunction syndrome disorder

764992006Muscle filaminopathy disorder

237611007Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus disorder

723407009Muscular dystrophy Selcen type disorder

773584001Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome disorder

24559001Mutilating keratoderma disorder

699316006Myhre syndrome disorder

733065003Myoclonus, cerebellar ataxia, deafness syndrome disorder

1177122009Myotonic dystrophy disorder

1264006004NLRC4-related familial cold autoinflammatory syndrome disorder

783146009NLRP12-associated hereditary periodic fever syndrome disorder

1360083000NOCARH syndrome disorder

781386002NUDT15 deficiency disorder

22199006Nail-patella syndrome disorder

723411003Nasopalpebral lipoma coloboma syndrome disorder

1208339007Neuhauser Eichner Opitz syndrome disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

699299001Neuroferritinopathy disorder

92824003Neurofibromatosis type 1 disorder

1208340009Neurofibromatosis type 6 disorder

1208615009Neurogenic scapuloperoneal syndrome Kaeser type disorder

1373768001Neuronal ceroid lipofuscinosis type 4 disorder

401046009Nicolaides-Baraitser syndrome disorder

33979003Nievergelt's syndrome disorder

773397000Non-hypoproteinaemic hypertrophic gastropathy disorder

723441001Non-progressive cerebellar ataxia with intellectual disability disorder

725057008Nonspherocytic haemolytic anaemia due to deficiency of adenosinetriphosphatase disorder

783143001Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia disorder

723444009Noonan syndrome-like disorder with loose anagen hair disorder

205824006Noonan's syndrome disorder

770667002Occult macular dystrophy disorder

699754008Oculodental syndrome disorder

722019000Oculootoradial syndrome disorder

722063009Odonto-tricho-ungual-digito-palmar syndrome disorder

699298009Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant disorder

771471002Optic nerve oedema, splenomegaly syndrome disorder

21877004Osler haemorrhagic telangiectasia syndrome disorder

722109008Osteocraniostenosis disorder

1234828008Osteofibrous dysplasia disorder

385482004Osteogenesis imperfecta type I disorder

254125009Osteomesopyknosis disorder

733064004Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome disorder

722117000Osteosclerosis, developmental delay, craniosynostosis syndrome disorder

1237343009Otodental syndrome disorder

722122000Overgrowth, macrocephaly, facial dysmorphism syndrome disorder

722125003Overhydrated hereditary stomatocytosis disorder

1208987006PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

1197745002PPARG-related familial partial lipodystrophy disorder

358501000112100PRKAG2 syndrome disorder

774069007PRKAR1B-related neurodegenerative dementia with intermediate filaments disorder

722859001PTEN hamartoma tumour syndrome disorder

1260097007PUM1-associated developmental disability, ataxia, seizure syndrome disorder

1303280001PUM1-related cerebellar ataxia disorder

239076000Palmoplantar hyperkeratosis sclerodactyly syndrome disorder

111030006Palmoplantar keratoderma oesophageal carcinoma syndrome disorder

724224007Palmoplantar keratoderma with clinodactyly syndrome disorder

1222646006Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome disorder

785725008Palmoplantar keratoderma, spastic paralysis syndrome disorder

722206009Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome disorder

783142006Pancytopenia due to IKZF1 mutations disorder

722210007Parastremmatic dwarfism disorder

771338002Parietal foramina with clavicular hypoplasia disorder

1356741005Parkinsonism with polyneuropathy disorder

715564000Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity disorder

699190008Paroxysmal extreme pain disorder disorder

724069009Patterson Stevenson Fontaine syndrome disorder

719298001Pelvis shoulder dysplasia disorder

783616005Perilipin 1 related familial partial lipodystrophy disorder

1197594000Periodic fever, infantile enterocolitis, autoinflammatory syndrome disorder

50869007Periodontal Ehlers-Danlos syndrome disorder

765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder

723497003Peripheral neuropathy with sensorineural hearing impairment syndrome disorder

718193005Peripheral resistance to thyroid hormone disorder

54411001Peutz-Jeghers syndrome disorder

718603002Phosphoserine aminotransferase deficiency disorder

237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction disorder

129894004Photoptarmosis disorder

773984007Piebald trait with neurologic defects syndrome disorder

718122005Piebaldism disorder

1220594007Pierpont syndrome disorder

702344008Pitt-Hopkins syndrome disorder

771186004Poikiloderma, alopecia, retrognathism, cleft palate syndrome disorder

733087007Polydactyly myopia syndrome disorder

725409009Polydactyly of biphalangeal thumb disorder

723446006Polydactyly of index finger disorder

715710001Polydactyly of triphalangeal thumb disorder

1208935007Polymicrogyria due to TUBB2B mutation disorder

29504002Polymorphous corneal dystrophy disorder

723448007Polyvalvular heart disease syndrome disorder

1173997008Pontine autosomal dominant microangiopathy with leucoencephalopathy disorder

763866005Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome disorder

770946000Postaxial tetramelic oligodactyly disorder

719296002Posterior amorphous corneal dystrophy disorder

724064004Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome disorder

1269233006Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome disorder

1217211002Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency disorder

702355008Potassium aggravated myotonia disorder

1231153007Primary failure of tooth eruption disorder

789063000Primary hyperaldosteronism, seizures, neurological abnormalities syndrome disorder

733422008Prion protein systemic amyloidosis disorder

719266007Progressive bifocal chorioretinal atrophy disorder

783055005Progressive myoclonic epilepsy type 5 disorder

1208939001Progressive myoclonic epilepsy type 7 disorder

82725007Progressive myositis ossificans disorder

719271000Progressive osseous heteroplasia disorder

239070006Progressive palmoplantar keratoderma of Greither disorder

1217226000Progressive scapulohumeroperoneal distal myopathy disorder

719272007Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome disorder

440989002Prothrombin G20210A mutation disorder

128115005Pseudo von Willebrand disease disorder

85880000Pseudohypoaldosteronism, type 1, dominant form disorder

717792007Pseudohypoparathyroidism type 1C disorder

58833000Pseudohypoparathyroidism type I A disorder

707747007Pseudoprimary hyperaldosteronism disorder

771263004Ptosis and vocal cord paralysis syndrome disorder

726619004Ptosis, strabismus, ectopic pupil syndrome disorder

717184007Punctate palmoplantar keratoderma type 1 disorder

765096001Punctate palmoplantar keratoderma type 2 disorder

724015007Pyogenic arthritis, pyoderma gangrenosum, acne syndrome disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

1172624000RERE-related neurodevelopmental syndrome disorder

766765009Radio-renal syndrome disorder

721882001Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome disorder

723504000Ramos Arroyo syndrome disorder

702323008Rapid onset dystonia parkinsonism disorder

1371052007Recurrent HSV-2 (herpes simplex virus 2) meningitis due to autosomal dominant ATG4A deficiency disorder

763534009Reflex epilepsy with hot water-induced seizures disorder

715472000Reinhardt Pfeiffer mesomelic dysplasia disorder

231930000Reis-Bucklers' corneal dystrophy disorder

446449009Renal coloboma syndrome disorder

1260240000Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha disorder

723502001Reticular dystrophy of retinal pigment epithelium disorder

239133004Reticulate acropigmentation of Kitamura disorder

774152007Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies disorder

770594005Retinal macular dystrophy type 2 disorder

783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations disorder

772130002Rhabdoid tumour predisposition syndrome disorder

47507006Rieger syndrome disorder

723499000Ring dermoid of cornea disorder

716772007Roch Leri mesosomatous lipomatosis disorder

721904001Rombo syndrome disorder

45853006Roussy-Lévy syndrome disorder

1172632008SIX2-related frontonasal dysplasia disorder

1303910000SLC40A1-related haemochromatosis disorder

698851003SOX2 anophthalmia syndrome disorder

1197362009STAT3-related early-onset multisystem autoimmune disease disorder

711164003STING-associated vasculopathy with onset in infancy disorder

1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder

83015004Saethre-Chotzen syndrome disorder

726629006Scalp defect postaxial polydactyly syndrome disorder

721888002Scalp, ear, nipple syndrome disorder

721902002Schilbach Rott syndrome disorder

716092007Schmitt Gillenwater Kelly syndrome disorder

419395007Schnyder crystalline cornea dystrophy disorder

782910009Seborrhoea-like dermatitis with psoriasiform elements disorder

1237571004Self-limited familial infantile epilepsy disorder

230410004Self-limited familial neonatal epilepsy disorder

1231282002Self-limited familial neonatal-infantile epilepsy disorder

716243005Sellars Beighton syndrome disorder

723993005Sensorineural deafness with dilated cardiomyopathy syndrome disorder

723721007Sensorineural hearing loss, early greying, essential tremor syndrome disorder

783556000Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency disorder

773551001Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome disorder

721069005Short fifth metacarpal insulin resistance syndrome disorder

726734001Short stature locking fingers syndrome disorder

716193004Short stature with valvular heart disease and characteristic facies syndrome disorder

1197586007Short stature, advanced bone age, early-onset osteoarthritis syndrome disorder

721072003Short stature, pituitary and cerebellar defect and small sella turcica syndrome disorder

721075001Short tarsus with absence of lower eyelashes syndrome disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

716230005Shprintzen Goldberg omphalocele syndrome disorder

254114000Singleton-Merten syndrome disorder

782824007Sodium channelopathy-related small fibre neuropathy disorder

193410003Sorsby pseudoinflammatory fundus dystrophy disorder

723623002Southeast Asian ovalocytosis disorder

763669001Spastic ataxia with congenital miosis disorder

765092004Spheroid body myopathy disorder

772129007Spinal muscular atrophy with lower extremity predominance disorder

715748006Spinocerebellar ataxia type 1 disorder

715754007Spinocerebellar ataxia type 10 disorder

719207000Spinocerebellar ataxia type 11 disorder

719208005Spinocerebellar ataxia type 12 disorder

719209002Spinocerebellar ataxia type 13 disorder

719210007Spinocerebellar ataxia type 14 disorder

716724006Spinocerebellar ataxia type 15/16 disorder

719249005Spinocerebellar ataxia type 17 disorder

719250005Spinocerebellar ataxia type 18 disorder

719251009Spinocerebellar ataxia type 19 disorder

715751004Spinocerebellar ataxia type 2 disorder

718771009Spinocerebellar ataxia type 20 disorder

718774001Spinocerebellar ataxia type 21 disorder

718772002Spinocerebellar ataxia type 23 disorder

718770005Spinocerebellar ataxia type 25 disorder

718769009Spinocerebellar ataxia type 26 disorder

719252002Spinocerebellar ataxia type 27 disorder

715824008Spinocerebellar ataxia type 28 disorder

715825009Spinocerebellar ataxia type 29 disorder

719253007Spinocerebellar ataxia type 30 disorder

715826005Spinocerebellar ataxia type 31 disorder

719254001Spinocerebellar ataxia type 32 disorder

719255000Spinocerebellar ataxia type 34 disorder

719300001Spinocerebellar ataxia type 35 disorder

711158005Spinocerebellar ataxia type 36 disorder

719301002Spinocerebellar ataxia type 37 disorder

734021001Spinocerebellar ataxia type 38 disorder

715755008Spinocerebellar ataxia type 4 disorder

734020000Spinocerebellar ataxia type 40 disorder

1208512000Spinocerebellar ataxia type 41 disorder

1208513005Spinocerebellar ataxia type 42 disorder

1208516002Spinocerebellar ataxia type 43 disorder

1279840000Spinocerebellar ataxia type 45 disorder

1279839002Spinocerebellar ataxia type 46 disorder

719302009Spinocerebellar ataxia type 5 disorder

715752006Spinocerebellar ataxia type 6 disorder

715726000Spinocerebellar ataxia type 7 disorder

715753001Spinocerebellar ataxia type 8 disorder

726724005Splenogonadal fusion, limb defect, micrognathia syndrome disorder

732927000Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome disorder

763885008Spondyloepimetaphyseal dysplasia Handigodu type disorder

719171005Spondyloepimetaphyseal dysplasia Missouri type disorder

766820007Spondyloepimetaphyseal dysplasia with multiple dislocations disorder

702350003Spondyloepimetaphyseal dysplasia, Strudwick type disorder

773300008Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome disorder

718765003Spondyloepiphyseal dysplasia Cantu type disorder

719203001Spondyloepiphyseal dysplasia Kimberley type disorder

718763005Spondyloepiphyseal dysplasia MacDermot type disorder

719204007Spondyloepiphyseal dysplasia Maroteaux type disorder

718764004Spondyloepiphyseal dysplasia Reardon type disorder

1228860003Spondyloepiphyseal dysplasia Stanescu type disorder

719304005Spondylometaphyseal dysplasia Schmidt type disorder

702339001Spondyloperipheral dysplasia disorder

719305006Stapes ankylosis with broad thumb and toe syndrome disorder

109433009Steatocystoma multiplex disorder

716233007Steinfeld syndrome disorder

723584003Stern Lubinsky Durrie syndrome disorder

1010668008Stickler syndrome type 1 disorder

1010664005Stickler syndrome type 2 disorder

783097004Stickler syndrome type 3 disorder

764958008Striate palmoplantar keratoderma disorder

723582004Subepithelial mucinous corneal dystrophy disorder

1162837001Symphalangism Cushing type disorder

732955001Symphalangism with multiple anomalies of hands and feet syndrome disorder

715723008Syndactyly type 1 disorder

715724002Syndactyly type 2 disorder

715725001Syndactyly type 3 disorder

719158007Syndactyly type 4 disorder

719159004Syndactyly type 5 disorder

718761007Syndromic microphthalmia type 5 disorder

717337001Syndromic orbital border hypoplasia disorder

770788000Tall stature, scoliosis, macrodactyly of great toe syndrome disorder

702312009Tarsal-carpal coalition syndrome disorder

725140007Temple Baraitser syndrome disorder

770945001Tetramelic monodactyly disorder

722476007Thickened earlobe with conductive deafness syndrome disorder

417065002Thiel-Behnke corneal dystrophy disorder

236418003Thin basement membrane disease disorder

723556008Thoracolaryngopelvic dysplasia disorder

771511005Thrombocythaemia with distal limb defect disorder

1197595004Thrombomodulin-related bleeding disorder disorder

771182002Thumb deformity, alopecia, pigmentation anomaly syndrome disorder

733117001Thumb stiffness, brachydactyly, intellectual disability syndrome disorder

715531000Tibial aplasia and ectrodactyly syndrome disorder

699256006Timothy syndrome type 1 disorder

719907006Timothy syndrome type 2 disorder

723552005Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency disorder

782935003Tremor, nystagmus, duodenal ulcer syndrome disorder

766812005Trichodysplasia xeroderma syndrome disorder

818959006Trichorhinophalangeal syndrome type 1 and 3 disorder

719949001Trigonocephaly with broad thumb syndrome disorder

1285322008Triopia disorder

733456002Triphalangeal thumb and dislocation of patella syndrome disorder

719950001Triphalangeal thumb and polysyndactyly syndrome disorder

719951002Triphalangeal thumb with brachyectrodactyly syndrome disorder

7199000Tuberous sclerosis syndrome disorder

719839000Tubular renal disease with cardiomyopathy syndrome disorder

61665008Turcot syndrome disorder

715242008Ulna metaphyseal dysplasia syndrome disorder

700211007Ulnar mammary syndrome disorder

719910004Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome disorder

719041000Upington disease disorder

719042007Uveal coloboma with cleft lip and palate and intellectual disability syndrome disorder

763616002Velofacioskeletal syndrome disorder

719019000WT limb blood syndrome disorder

715988005Wellesley Carman French syndrome disorder

718553004White platelet syndrome disorder

389203001White sponge naevus disorder

389274008Whyte Hemingway carpal tarsal phalangeal osteolyses disorder

1187122000Witteveen Kolk syndrome disorder

734022008Wolfram-like syndrome disorder

7037003XTE syndrome disorder

699447001Zimmermann-Laband syndrome disorder

Autosomal dominant hereditary disorder

Synonyms

Parents (1)

Children (984)