Developmental hereditary disorder

Code	`363070008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20210131

77079400811p15.4 microduplication syndrome disorder

76847100616p12.2 microdeletion syndrome disorder

88009300217q11 deletion syndrome disorder

71958300217q11.2 microduplication syndrome disorder

89011000417q23.1-q23.2 duplication syndrome disorder

7707560082p13.2 microdeletion syndrome disorder

7196520072p21 microdeletion syndrome disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

7023420073-M syndrome disorder

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

12226720023-methylglutaconic aciduria type 9 disorder

7336370013-phosphoglycerate dehydrogenase deficiency infantile form disorder

13679000043q26q28 deletion syndrome disorder

7164560003q29 microdeletion syndrome 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

78309200546,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency disorder

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

72504500446,XY partial gonadal dysgenesis disorder

12089330004H leucodystrophy disorder

7252890095-amino-4-imidazole carboxamide ribosiduria disorder

7647030027p22.1 microduplication syndrome disorder

7241470048q13 microdeletion syndrome disorder

12298950088q24.3 microdeletion syndrome disorder

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

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

1332385000AMeD syndrome disorder

787175002ANK3-related intellectual disability, sleep disturbance syndrome disorder

71988008Aase syndrome disorder

718575002Ablepharon macrostomia syndrome disorder

718574003Abruzzo Erickson syndrome disorder

719595002Absence of fingerprints with congenital milia syndrome disorder

771264005Absent radius, anogenital anomalies syndrome disorder

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

733068001Absent tibia, polydactyly, arachnoid cyst syndrome disorder

718573009Achalasia microcephaly syndrome disorder

86268005Achondroplasia disorder

56852002Achromatopsia disorder

722280000Ackerman syndrome disorder

720410001Acro-oto-ocular syndrome disorder

715951007Acrocallosal syndrome disorder

720416007Acrocapitofemoral dysplasia disorder

890221004Acrocardiofacial syndrome disorder

720417003Acrocephalopolydactyly disorder

403767009Acrocephalopolysyndactyly type II disorder

205258009Acrocephalosyndactyly type I disorder

70410008Acrocephalosyndactyly type V disorder

720418008Acrocraniofacial dysostosis disorder

66758006Acrodysostosis disorder

720419000Acrofacial dysostosis Catania type disorder

720427009Acrofacial dysostosis Kennedy Teebi type disorder

720429007Acrofacial dysostosis Palagonia type disorder

720430002Acrofacial dysostosis Rodriguez type disorder

720408003Acrofrontofacionasal dysostosis disorder

721835008Acrofrontofacionasal dysostosis type 2 disorder

400085009Acrokeratosis verruciformis of Hopf disorder

720456009Acromegaloid facial appearance syndrome disorder

389167007Acromesomelic dysplasia Hunter-Thompson type disorder

718559000Acromesomelic dysplasia Maroteaux type disorder

254090007Acromicric dysplasia disorder

720412009Acropectoral syndrome disorder

720457000Acropectorovertebral dysplasia disorder

720414005Acrorenal mandibular syndrome disorder

720458005Acrorenal syndrome disorder

720415006Acrorenoocular syndrome disorder

34748004Adams-Oliver syndrome disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

763797003Agenesis of corpus callosum and abnormal genitalia syndrome disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

722283003Agnathia, holoprosencephaly, situs inversus syndrome disorder

80651009Aicardi's syndrome disorder

253215004Alacrima disorder

15890002Albinism disorder

55819001Albinotic fundus disorder

702327009Allan-Herndon-Dudley syndrome disorder

720981000Alopecia and intellectual disability with hypergonadotropic hypogonadism 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

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

734349003Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 disorder

63702009Alstrom syndrome disorder

720983002Amaurosis hypertrichosis syndrome disorder

715404000Amelo-onycho-hypohidrotic syndrome disorder

78494001Amelogenesis imperfecta disorder

702437000Amish lethal microcephaly disorder

702439002Andermann syndrome disorder

12313004Androgen resistance 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

733116005Aniridia, renal agenesis, psychomotor retardation syndrome disorder

720492008Ankylosing vertebral hyperostosis with tylosis syndrome disorder

720494009Anonychia with microcephaly syndrome disorder

720495005Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome disorder

720496006Anophthalmia plus syndrome disorder

784351000Antecubital pterygium syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

62964007Antley-Bixler syndrome disorder

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

720498007Aphalangy and syndactyly with microcephaly syndrome disorder

733118006Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome disorder

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

723554006Aplasia cutis congenita with epibulbar dermoid syndrome disorder

720500008Aplasia cutis congenita with intestinal lymphangiectasia syndrome disorder

720499004Aplasia cutis with myopia syndrome disorder

715656004Aplasia of lacrimal and salivary gland disorder

720512007Arterial dissection and lentiginosis syndrome disorder

31742004Arteriohepatic dysplasia disorder

702441001Arts syndrome disorder

254243001Ash leaf spot, tuberous sclerosis disorder

1345055005Asymmetric crying facies syndrome disorder

720517001Ataxia with deafness and intellectual disability syndrome disorder

68504005Ataxia-telangiectasia syndrome disorder

43814000Atelosteogenesis disorder

720518006Athabaskan brainstem dysgenesis syndrome disorder

718577005Atkin Flaitz syndrome disorder

725145002Atrial septal defect, atrioventricular conduction defect syndrome disorder

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

718393002Atypical Rett syndrome disorder

778025006Atypical hypotonia cystinuria syndrome disorder

702443003Auriculo-condylar syndrome disorder

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

771512003Autism spectrum disorder due to AUTS2 deficiency disorder

778006008Autosomal dominant aplasia and myelodysplasia disorder

716696006Autosomal dominant centronuclear myopathy disorder

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

403794008Autosomal dominant familial woolly hair disorder

7731005Autosomal dominant hypohidrotic ectodermal dysplasia syndrome disorder

237890006Autosomal dominant hypophosphataemic bone disease disorder

778069004Autosomal dominant mandibular prognathism disorder

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

719518004Autosomal dominant palmoplantar keratoderma and congenital alopecia disorder

765331004Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis disorder

718222000Autosomal dominant popliteal pterygium syndrome disorder

1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome disorder

778070003Autosomal dominant primary microcephaly disorder

716232002Autosomal dominant spondylocostal dysostosis disorder

726735000Autosomal recessive amelia disorder

17192009Autosomal recessive asexual dwarfism disorder

1237625002Autosomal recessive cerebellar ataxia due to CWF19L1 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

715369006Autosomal recessive cerebelloparenchymal disorder type 3 disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

1351328007Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency disorder

1186734006Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction disorder

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

715487005Autosomal recessive distal osteolysis syndrome disorder

1197358003Autosomal recessive dysgenesis of anterior segment of eye disorder

725434009Autosomal recessive facio-digito-genital syndrome disorder

403795009Autosomal recessive familial woolly hair disorder

773394007Autosomal recessive frontotemporal pachygyria disorder

27025001Autosomal recessive hypohidrotic ectodermal dysplasia syndrome disorder

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

1222704008Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy disorder

771476007Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome disorder

719104003Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome disorder

722376008Autosomal recessive popliteal pterygium syndrome disorder

715981004Autosomal recessive primary microcephaly disorder

204152008Axenfeld anomaly disorder

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

717945001BRESEK syndrome disorder

719097002BSG syndrome disorder

722298001Ballard syndrome disorder

77608001Baller-Gerold syndrome disorder

722375007Bamforth Lazarus syndrome disorder

733093004Banki syndrome disorder

5619004Bardet-Biedl syndrome disorder

1187644009Basel Vanagaite Smirin Yosef syndrome disorder

81780002Beckwith-Wiedemann syndrome disorder

717859007Beemer Ertbruggen syndrome disorder

718221007Behr syndrome disorder

193222002Benign congenital myopathy disorder

238047006Beta-D-mannosidosis disorder

787413007Bifid nose disorder

890286007Bilateral frontoparietal polymicrogyria disorder

717909004Bilateral microtia with deafness and cleft palate syndrome disorder

67817003Björnstad syndrome disorder

717911008Blepharocheilodontic syndrome disorder

717913006Blepharonasofacial malformation syndrome disorder

778009001Blepharophimosis, intellectual disability syndrome, Verloes type disorder

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

717915004Blepharoptosis, myopia, ectopia lentis syndrome disorder

389237009Blomstrand dysplasia disorder

789676005Blue cone monochromatism disorder

716180009Boder syndrome disorder

717187000Boichis syndrome disorder

732249002Bone dysplasia lethal Holmgren type disorder

722296002Book syndrome disorder

21634003Borjeson-Forssman-Lehmann syndrome disorder

720567008Bosley Salih Alorainy syndrome disorder

711153001Bowen-Conradi syndrome disorder

720568003Brachydactyly and arterial hypertension syndrome disorder

732956000Brachydactyly and distal symphalangism syndrome disorder

732957009Brachydactyly and preaxial hallux varus syndrome disorder

389168002Brachydactyly syndrome type B 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

782914000Brachydactyly, short stature, retinitis pigmentosa syndrome disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

254088006Brachyolmia disorder

778067002Brachytelephalangic chondrodysplasia punctata disorder

720574003Brachytelephalangy, facial dysmorphism, Kallmann syndrome disorder

720575002Braddock syndrome disorder

720576001Brain calcification Rajab type disorder

732961003Branchial dysplasia, intellectual disability, inguinal hernia syndrome disorder

717944002Branchiogenic deafness syndrome disorder

449821007Branchiooculofacial syndrome disorder

764810000Branchiootic syndrome disorder

725589005Bullous dystrophy macular type disorder

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

726031001CAMOS syndrome disorder

703389002CASK related intellectual disability 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

17608003CHILD syndrome disorder

773329005CK syndrome disorder

1172691004CLCN4-related X-linked intellectual disability syndrome disorder

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

1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder

717772000CODAS syndrome disorder

720599002Campomelia Cumming type disorder

720601000Camptodactyly and tall stature with scoliosis and hearing loss syndrome disorder

720602007Camptodactyly syndrome Guadalajara type 1 disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

720600004Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome disorder

703533007Capillary malformation-arteriovenous malformation syndrome disorder

720605009Cardiac anomaly and heterotaxy syndrome disorder

1332387008Cardiac urogenital syndrome disorder

720606005Cardiocranial syndrome Pfeiffer type disorder

720610008Cardiomyopathy and renal anomaly syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

1237346001Caroli syndrome disorder

389272007Carpotarsal osteochondromatosis disorder

722382006Cataract and microcornea syndrome disorder

718851007Cataract glaucoma 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

43152001Central core disease disorder

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

715371006Cerebellar ataxia and ectodermal dysplasia disorder

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

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

1237475006Cerebellar-facial-dental syndrome disorder

715990006Cerebellum agenesis with hydrocephaly disorder

1216942009Cerebral ventriculomegaly, cystic kidney disease disorder

720635002Cerebro-facio-thoracic dysplasia disorder

763353000Cerebrofacioarticular syndrome disorder

720855003Cerebrooculonasal syndrome disorder

720852000Cervical hypertrichosis and peripheral neuropathy syndrome disorder

703534001Char syndrome disorder

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

389273002Cherubism with gingival fibromatosis disorder

716238003Chitty Hall Baraitser syndrome disorder

232373003Choanal atresia with radial ray hypoplasia disorder

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

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

715631005Chondrodysplasia punctata Toriello type disorder

398958000Chondrodysplasia punctata, X-linked dominant type disorder

254082007Chondrodysplasia punctata, X-linked recessive type disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

782882009Chondrodysplasia with joint dislocations gPAPP type disorder

717761005Choroideraemia with deafness and obesity syndrome disorder

702354007Christianson syndrome disorder

719808002Chromosome Xp11.3 microdeletion syndrome disorder

718881004Chromosome Xq27.3q28 duplication syndrome disorder

773610007Chudley McCullough syndrome disorder

1300132009Clark Baraitser syndrome disorder

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

732247000Cleft lip retinopathy 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

717771007Cloverleaf skull with multiple congenital anomalies syndrome disorder

785299009Cobblestone lissencephaly without muscular or ocular involvement disorder

21086008Cockayne syndrome disorder

56604005Cohen syndrome disorder

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

1179296003Colobomatous macrophthalmia with microcornea syndrome disorder

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

764942005Colobomatous microphthalmia, rhizomelic dysplasia syndrome disorder

1197357008Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome disorder

35691006Combined deficiency of sialidase AND beta galactosidase disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

1197428008Combined immunodeficiency, enteropathy spectrum disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

1172844009Combined oxidative phosphorylation defect type 27 disorder

1279845005Combined oxidative phosphorylation defect type 39 disorder

1228858000Complex lethal osteochondrodysplasia disorder

763213001Conductive deafness, ptosis, skeletal anomalies syndrome disorder

770626007Congenital Horner syndrome disorder

237751000Congenital adrenal hyperplasia disorder

237764004Congenital adrenal hypoplasia, X-linked disorder

204138006Congenital blue dot cataract 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

1177169004Congenital cerebellar ataxia due to RNU12 mutation disorder

715436007Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration disorder

702360007Congenital deafness with labyrinthine aplasia, microtia and microdontia disorder

1208413008Congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder

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

1208416000Congenital fibre-type disproportion myopathy due to TPM3 mutation disorder

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

417651000Congenital hereditary endothelial dystrophy disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

719842006Congenital hypoplasia of ulna and intellectual disability syndrome disorder

733030003Congenital hypoplasia of ulna and split foot syndrome disorder

13059002Congenital ichthyosis of skin disorder

1237623009Congenital insensitivity to pain with severe intellectual disability disorder

1279831004Congenital insensitivity to pain, anosmia, neuropathic arthropathy disorder

722390006Congenital intrauterine infection-like syndrome disorder

1254893000Congenital isolated onychodysplasia disorder

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

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

764945007Congenital myopathy with internal nuclei and atypical cores disorder

763315005Congenital myopathy with myasthenic-like onset disorder

1255274002Congenital myopathy with reduced type 2 muscle fibres disorder

48796009Congenital nephrotic syndrome disorder

775909002Congenital neutropenia, myelofibrosis, nephromegaly syndrome disorder

718610008Congenital pontocerebellar hypoplasia type 1 disorder

782720005Congenital pontocerebellar hypoplasia type 10 disorder

1300188000Congenital pontocerebellar hypoplasia type 11 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

725101002Congenital short costocoracoid ligament disorder

232061009Congenital stationary night blindness disorder

253226005Congenital sutural cataract disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

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

766874001Cono-spondylar dysplasia disorder

720747002Cooks syndrome disorder

720748007Cooper Jabs syndrome disorder

890350009Coralliform cataract disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

784344009Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation disorder

732248005Coxoauricular syndrome disorder

720752007Coxopodopatellar syndrome disorder

205506004Craniodiaphyseal dysplasia disorder

763665007Craniodigital syndrome and intellectual disability syndrome disorder

720754008Craniofacial conodysplasia syndrome disorder

702362004Craniofacial deafness hand syndrome 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

715421009Craniofrontonasal dysplasia disorder

725100001Craniolenticulosutural dysplasia disorder

725098001Craniomicromelic syndrome disorder

720753002Cranioosteoarthropathy disorder

720817008Craniosynostosis Boston type disorder

720818003Craniosynostosis Philadelphia type disorder

773332008Craniosynostosis and dental anomalies syndrome disorder

720816004Craniosynostosis and intracranial calcification syndrome disorder

732250002Craniosynostosis fibular aplasia syndrome disorder

720813007Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome disorder

720812002Craniosynostosis, anal anomaly, porokeratosis syndrome disorder

1269224009Craniosynostosis, microretrognathia, severe intellectual disability syndrome disorder

725097006Crisponi syndrome disorder

722381004Crome syndrome disorder

28861008Crouzon syndrome disorder

725096002Cryptomicrotia brachydactyly syndrome disorder

204102004Cryptophthalmos syndrome disorder

763686007Curly hair, acral keratoderma, caries syndrome disorder

277807007Curry-Hall syndrome disorder

703528008Cutis gyrata syndrome of Beare and Stevenson disorder

732261005Cyprus facial neuromusculoskeletal syndrome disorder

720401009Cystic fibrosis with gastritis and megaloblastic anaemia syndrome disorder

720825005Cystic leucoencephalopathy without megalencephaly disorder

720826006Czech dysplasia metatarsal type disorder

719021005DK phocomelia syndrome disorder

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

721082002Dacryocystitis and osteopoikilosis syndrome disorder

733094005Dandy-Walker malformation with postaxial polydactyly syndrome disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

721087008Deafness and intellectual disability Martin Probst type syndrome disorder

716245003Deafness craniofacial syndrome disorder

773735007Deafness with onychodystrophy syndrome disorder

721085000Deafness, enamel hypoplasia, nail defect syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

702423009Deafness-dystonia-optic neuronopathy syndrome disorder

109492001Dentin dysplasia disorder

196286005Dentinogenesis imperfecta disorder

733044009Dermatoleukodystrophy disorder

721090002Dermatoosteolysis Kirghizian type disorder

721091003Dermo-odonto dysplasia disorder

254099008Desbuquois syndrome disorder

770627003Desmin-related myofibrillar myopathy disorder

709490002Desmosterolosis disorder

234951001Developmental absence of tooth disorder

782828005Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency disorder

770790004Developmental delay with autism spectrum disorder and gait instability disorder

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

1340174002Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome 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

721094006Diaphanospondylodysostosis disorder

721095007Diaphragmatic defect, limb deficiency, skull defect syndrome disorder

34643004Diaphyseal dysplasia disorder

389216001Diaphyseal medullary stenosis with bone malignancy disorder

58561002Diastrophic dysplasia disorder

50056009Dibasic amino aciduria type 1 disorder

766871009Diencephalic mesencephalic junction dysplasia disorder

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

771261002Digital extensor muscle aplasia with polyneuropathy disorder

719451006Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome disorder

763755009Dislocation of hip and facial dysmorphism syndrome disorder

722429003Distal limb deficiency with micrognathia syndrome disorder

720598005Doughnut lesion of calvaria and bone fragility syndrome disorder

236385009Drash syndrome disorder

1230014007Duane retraction syndrome with congenital deafness disorder

44553005Dubin-Johnson syndrome disorder

733070005Duplication of eyebrow and syndactyly syndrome disorder

82699004Dyggve-Melchior-Clausen syndrome disorder

230782004Dysequilibrium syndrome disorder

74911008Dyskeratosis congenita disorder

27642008Dysmorphic sialidosis, congenital form disorder

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

205480005Dysplasia epiphysealis hemimelica disorder

765204000Dyssegmental dysplasia Silverman Handmaker type disorder

722439009EDICT syndrome disorder

1351962002EGF-related primary hypomagnesaemia with intellectual disability disorder

1260203008EVEN-plus syndrome disorder

703508009Ear, patella, short stature syndrome disorder

716107009Early onset parkinsonism and intellectual disability syndrome 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

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

732953008Ectodermal dysplasia and sensorineural deafness syndrome disorder

771335004Ectodermal dysplasia syndactyly syndrome disorder

734018003Ectodermal dysplasia trichoodontoonychial type disorder

721208007Ectodermal dysplasia with blindness syndrome disorder

720856002Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome disorder

715576000Ectodermal dysplasia with natal teeth Turnpenny type disorder

734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome disorder

419237004Ectopia lentis et pupillae disorder

722437006Ectopia lentis, chorioretinal dystrophy, myopia syndrome disorder

771177009Ectrodactyly polydactyly syndrome disorder

771178004Edinburgh malformation syndrome disorder

733457006Ehlers-Danlos and osteogenesis imperfecta syndrome disorder

398114001Ehlers-Danlos syndrome disorder

773768000Emery Nelson syndrome disorder

1236807002Encephalopathy due to mitochondrial and peroxisomal fission defect disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

718099006Enlarged parietal foramina disorder

1208480004Epibulbar lipodermoid, preauricular appendage, polythelia syndrome disorder

61003004Epidermolysis bullosa disorder

784345005Epilepsy of infancy with migrating focal seizures disorder

733032006Epilepsy telangiectasia syndrome disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

726702005Epileptic encephalopathy with global cerebral demyelination disorder

733416004Exostosis, anetoderma, brachydactyly type E syndrome disorder

782937006Extensor tendons of finger anomalies disorder

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

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

778029000FASTKD2-related infantile mitochondrial encephalomyopathy disorder

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

1237179007FG syndrome type 1 disorder

778008009FGFR2-related bent bone dysplasia disorder

1186709006FLNA-related X-linked myxomatous valvular dysplasia disorder

702450004FOXG1 syndrome disorder

716709002FRAXE intellectual disability syndrome disorder

782949007Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome disorder

763279007Facial dysmorphism, conductive hearing loss, heart defect 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

782917007Familial adrenal hypoplasia with absent pituitary luteinising hormone disorder

37495007Familial adrenocortical hypoplasia disorder

71322004Familial articular hypermobility syndrome disorder

770435005Familial bicuspid aortic valve disorder

722493007Familial caudal dysgenesis disorder

1197365006Familial cavitary optic disc anomaly disorder

1230016009Familial congenital nasolacrimal duct obstruction disorder

717192003Familial digital arthropathy and brachydactyly syndrome disorder

765195000Familial generalised lentiginosis disorder

773645004Familial infantile gigantism disorder

726708009Familial isolated congenital asplenia disorder

764523004Familial isolated trichomegaly disorder

725295005Familial male-limited precocious puberty disorder

718552009Familial median cleft of upper and lower lip disorder

770900000Familial omphalocele syndrome with facial dysmorphism disorder

1179298002Familial patent arterial duct disorder

716744000Familial penile hypospadias disorder

763368004Familial progressive hyper and hypopigmentation disorder

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

725030006Familial scaphocephaly syndrome McGillivray type disorder

1187040004Familial steroid-resistant nephrotic syndrome with adrenal insufficiency disorder

764965000Familial thoracic aortic aneurysm and aortic dissection disorder

763716008Familial vesicoureteral reflux disorder

82236004Familial x-linked hypophosphataemic vitamin D refractory rickets disorder

30575002Fanconi's anaemia disorder

1230303001Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease disorder

459062008Fatal congenital nonlysosomal heart glycogenosis disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

1220575002Fetal encasement syndrome disorder

17144009Fibrochondrogenesis disorder

36025004Fibrous skin tumour of tuberous sclerosis disorder

715474004Fibular aplasia and complex brachydactyly disorder

720952001Fibular aplasia and ectrodactyly syndrome disorder

720954000Filippi syndrome disorder

720955004Fine Lubinsky syndrome disorder

773750003Flat face, microstomia, ear anomaly syndrome disorder

312214005Floating-Harbor syndrome disorder

205573006Focal dermal hypoplasia disorder

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

789157007Focal facial dermal dysplasia type I disorder

789159005Focal facial dermal dysplasia type II disorder

789161001Focal facial dermal dysplasia type IV disorder

720957007Fountain syndrome disorder

778042000Foveal hypoplasia with presenile cataract syndrome disorder

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

613003Fragile X syndrome disorder

254150007Francois syndrome disorder

720958002Frank-Ter Haar syndrome disorder

718848000Fried syndrome disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

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

1230021007Frontorhiny disorder

716108004Fryns macrocephaly disorder

702432006Fryns syndrome disorder

721296004Fuhrmann syndrome disorder

721843003GAPO syndrome disorder

1228875006GCGR-related hyperglucagonaemia disorder

722450007GEMSS syndrome disorder

238025006GM1 gangliosidosis disorder

716024001GMS syndrome disorder

1186711002GNB5-related intellectual disability, cardiac arrhythmia syndrome disorder

770431001GRIN2A developmental and epileptic encephalopathy disorder

1186730002Gabriele-de Vries syndrome disorder

721297008Galloway Mowat syndrome disorder

716198008Game Friedman Paradice syndrome disorder

60876000Gardner syndrome disorder

773749003Genitopalatocardiac syndrome disorder

702367005Genitopatellar syndrome disorder

1003427004Genochondromatosis type 1 disorder

725904009Genochondromatosis type 2 disorder

254116003Geroderma osteodysplastica disorder

389214003Ghosal haematodiaphyseal dysplasia disorder

719687007Gingival fibromatosis with facial dysmorphism syndrome disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

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

1172696009Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome disorder

715644000Glomuvenous malformation disorder

61598006Glycogenosis with glucoaminophosphaturia disorder

715568002Gnathodiaphyseal dysplasia disorder

717822006Goldberg Shprintzen megacolon syndrome disorder

716096005Goldblatt Wallis syndrome disorder

205418005Goldenhar syndrome disorder

716006003Gollop Wolfgang complex disorder

716022002Gollop syndrome disorder

93466004Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance disorder

205800003Gorlin-Chaudhry-Moss syndrome disorder

723827003Grant syndrome disorder

77542002Grebe syndrome disorder

715625007Growth delay due to insulin-like growth factor I resistance None

1186713004Growth delay, intellectual disability, hepatopathy syndrome disorder

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

763186006Grubben, De Cock, Borghgraef syndrome disorder

722452004Guttmacher syndrome disorder

765434008HIVEP2-related intellectual disability disorder

719973009Haim Munk syndrome disorder

721007005Hair defect with photosensitivity and intellectual disability syndrome disorder

771180005Hallux varus, preaxial polysyndactyly syndrome disorder

702425002Hand-foot-genital syndrome disorder

766032007Hartsfield syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

721014007Heart-hand syndrome Slovenian type disorder

733046006Hemifacial hyperplasia strabismus syndrome disorder

722453009Hennekam Beemer syndrome disorder

771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome disorder

254217002Hereditary acantholytic dermatosis disorder

733467001Hereditary anetoderma disorder

400014002Hereditary benign intraepithelial dyskeratosis disorder

238855000Hereditary camptodactyly disorder

239055005Hereditary clubbing disorder

733469003Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome disorder

782911008Hereditary cryohydrocytosis with reduced stomatin disorder

191169008Hereditary elliptocytosis disorder

724350009Hereditary hypotrichosis with recurrent skin vesicles syndrome disorder

770786001Hereditary inclusion body myopathy type 4 disorder

783255002Hereditary isolated aplastic anaemia disorder

254199006Hereditary lymphoedema disorder

403442005Hereditary mucoepithelial dysplasia disorder

403775003Hereditary neurocutaneous angiomata disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

193225000Hereditary progressive muscular dystrophy disorder

302961007Hereditary splenic hypoplasia disorder

191329002Hereditary vascular fragility disorder

771239007Hidrotic ectodermal dysplasia Christianson Fourie type disorder

721147000Hidrotic ectodermal dysplasia Halal type disorder

54209007Hidrotic ectodermal dysplasia syndrome disorder

782781006High bone mass osteogenesis imperfecta disorder

721221000Hirschsprung disease with deafness and polydactyly syndrome disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

721222007Hirschsprung disease with type D brachydactyly syndrome disorder

716091000Holoprosencephaly and postaxial polydactyly syndrome disorder

19092004Holt-Oram syndrome disorder

783159001Holzgreve syndrome disorder

721227001Hunter McAlpine craniosynostosis syndrome disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

721229003Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome disorder

732926009Hydrocephalus, tall stature, joint laxity syndrome disorder

721232000Hydrolethalus syndrome disorder

785726009Hyperekplexia epilepsy syndrome disorder

721233005Hypergonadotropic hypogonadism with cataract syndrome disorder

33982008Hyperphosphatasaemia with intellectual disability disorder

724284005Hypertelorism Teebi type disorder

721836009Hypertelorism with microtia and facial clefting syndrome disorder

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

771181009Hypertrichosis cubiti disorder

718713000Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

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

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

239007005Hypohidrotic X-linked ectodermal dysplasia disorder

721845005Hypomandibular faciocranial dysostosis disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

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

716741008Hypoplastic tibia and postaxial polydactyly 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

763658004Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome disorder

70199000I-cell disease disorder

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

86204009Immotile cilia syndrome disorder

702382000Inclusion body myopathy 2 disorder

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

367520004Incontinentia pigmenti syndrome disorder

770725000Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly disorder

724228005Infantile choroidocerebral calcification syndrome disorder

771223000Infantile epileptic dyskinetic encephalopathy disorder

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

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

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

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

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

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

725905005Infundibulopelvic stenosis multicystic kidney syndrome disorder

28204005Inherited arthrogryposis disorder

239079007Inherited cutaneous hyperpigmentation disorder

254220005Inherited cutis laxa disorder

764960005Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency disorder

236482006Inherited renal tubule insufficiency with cholestatic jaundice disorder

725906006Intellectual disability Buenos Aires type disorder

773405004Intellectual disability with strabismus syndrome disorder

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

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

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

773581009Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome disorder

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

721146009Intellectual disability, epilepsy, bulbous nose syndrome disorder

1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder

1197593006Intellectual disability, expressive aphasia, facial dysmorphism syndrome disorder

782736007Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 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

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities 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

763743003Intellectual disability, spasticity, ectrodactyly syndrome disorder

715669000Intestinal epithelial dysplasia disorder

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

717963001Isolated anterior cervical hypertrichosis disorder

1345054009Isolated asymmetric crying facies disorder

1365977003Isolated childhood apraxia of speech disorder

763748007Isolated congenital adermatoglyphia disorder

734026006Isolated congenital megalocornea disorder

718691008Isolated cryptophthalmos disorder

733091002Isolated hereditary congenital facial paralysis disorder

1363062007Isolated multiple intestinal atresia disorder

1231182008Isolated osteopoikilosis disorder

718135001Isolated right ventricular hypoplasia disorder

253336000Isomerism of right atrial appendage disorder

722006004Isotretinoin-like syndrome disorder

709105005Jackson-Weiss syndrome disorder

61367005Jarcho-Levin syndrome disorder

771470001Jawad syndrome disorder

373905003Jervell and Lange-Nielsen syndrome disorder

75049004Jeune thoracic dystrophy disorder

721584005Johnson neuroectodermal syndrome disorder

716997004Joubert syndrome disorder

721874001Juberg Hayward syndrome disorder

722457005Juvenile cataract, microcornea, renal glucosuria syndrome disorder

711156009KBG syndrome disorder

778001003KCNQ2 developmental and epileptic encephalopathy disorder

1300133004KLHL7-related Bohring Opitz-like syndrome disorder

313426007Kabuki make-up syndrome disorder

722027009Kallman syndrome with heart disease disorder

722031003Kapur Toriello syndrome disorder

715989002Karandikar Maria Kamble syndrome disorder

722032005Karsch Neugebauer syndrome disorder

716112005Kawashima Tsuji syndrome disorder

763774001Keipert syndrome disorder

1220589007Keppen Lubinsky syndrome disorder

724208006Keutel syndrome disorder

764957003King Denborough syndrome disorder

724207001Kleefstra syndrome disorder

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

53974002Kniest dysplasia disorder

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

717338006Koolen De Vries syndrome disorder

716996008L1 syndrome disorder

724177005LIG4 syndrome disorder

724179008Laron syndrome with immunodeficiency disorder

38196001Laron-type isolated somatotropin defect disorder

63387002Larsen syndrome disorder

724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder

232059000Laurence-Moon syndrome disorder

719429003Lelis syndrome disorder

438504004Lenz microphthalmia syndrome disorder

111307005Leprechaunism syndrome disorder

17818006Leri-Weill dyschondrosteosis disorder

93132001Lethal Kniest-like syndrome disorder

719409004Lethal Larsen-like syndrome disorder

782773005Lethal arteriopathy syndrome due to fibulin-4 deficiency disorder

1229876001Lethal brain and heart developmental defects syndrome disorder

719400000Lethal faciocardiomelic dysplasia disorder

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

1237342004Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome disorder

719402008Lethal haemolytic anaemia and genital anomaly 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

400128006Lethal tight skin contracture syndrome disorder

719405005Leucoencephalopathy with metaphyseal chondrodysplasia syndrome disorder

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

56212008Leydig cell agenesis disorder

764437006Liebenberg syndrome disorder

721972001Limb mammary syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

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

717977003Lissencephaly syndrome Norman Roberts type disorder

715780008Lissencephaly type 1 due to doublecortin gene mutation disorder

718719001Lissencephaly type 3 familial fetal akinesia sequence syndrome disorder

718720007Lissencephaly type 3 metacarpal bone dysplasia syndrome disorder

733454004Long thumb brachydactyly syndrome disorder

79385002Lowe syndrome disorder

721974000Lowry MacLean syndrome disorder

716007007Lowry Yong syndrome disorder

721976003Lung agenesis with heart defect and thumb anomaly syndrome disorder

721977007Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome disorder

721979005Lymphoedema and cerebral arteriovenous anomaly syndrome disorder

1169358003MARCH syndrome disorder

711409002MEGDEL syndrome disorder

722037004MEHMO syndrome disorder

1234831009MIRAGE syndrome disorder

724137002MOMO syndrome disorder

715628009MORM syndrome disorder

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

716023007MacDermot Winter syndrome disorder

763773007Macrocephaly and developmental delay syndrome disorder

783089006Macrocephaly, intellectual disability, autism syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

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

773282001Macrosomia, microphthalmia, cleft palate syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

722463001Macular coloboma, cleft palate, hallux valgus syndrome disorder

60258001Macular corneal dystrophy disorder

703540008Majeed syndrome disorder

763795006Malan overgrowth syndrome disorder

782739000Male emopamil-binding protein disorder with neurological defect disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

718679004Mammary digital nail syndrome disorder

773406003Mandibular hypoplasia, deafness, progeroid syndrome disorder

109419009Mandibuloacral dysostosis disorder

1373746006Mandibuloacral dysplasia associated to MTX2 disorder

703539006Manitoba oculotrichoanal syndrome disorder

65524005Mannosidosis disorder

733062000Marfanoid habitus with autosomal recessive intellectual disability syndrome disorder

732262003Marfanoid syndrome De Silva type disorder

254234005Marie Unna syndrome disorder

80734006Marinesco-Sjögren syndrome disorder

69463008Maroteaux-Lamy syndrome disorder

73284007Marshall-Smith syndrome disorder

722458000Matthew Wood syndrome disorder

702407009McKusick Kaufman syndrome disorder

253781004Megacystis, microcolon, hypoperistalsis syndrome disorder

703536004Megalencephalic leucoencephalopathy with subcortical cysts disorder

700063005Megalencephaly capillary malformation disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

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

733522005Megalocornea with intellectual disability syndrome disorder

783246000Megalocornea, spherophakia, secondary glaucoma syndrome disorder

716199000Mehes syndrome disorder

290006Melnick-Fraser syndrome disorder

1197053003Melorheostosis with osteopoikilosis disorder

59178007Menkes kinky-hair syndrome disorder

724170007Mesoaxial synostotic syndactyly with phalangeal reduction syndrome disorder

719397009Mesomelic dysplasia Kantaputra type disorder

205481009Metachondromatosis disorder

7720002Metaphyseal chondrodysplasia, McKusick type disorder

724146008Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

717221005Metaphyseal dysplasia Braun Tinschert type disorder

724145007Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome 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

719394002Microcephalus cleft palate 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

733604003Microcephalus, lymphoedema, chorioretinopathy syndrome disorder

715462003Microcephaly with cervical spine fusion anomaly disorder

1172683008Microcephaly, congenital cataract, psoriasiform dermatitis 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

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

716165003Microcornea with corectopia and macular hypoplasia syndrome disorder

716166002Microcornea with glaucoma and absent frontal sinus syndrome disorder

774212003Microcornea, myopic chorioretinal atrophy, telecanthus syndrome disorder

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

723405001Microlissencephaly micromelia syndrome disorder

717222003Microphthalmia with ankyloblepharon and intellectual disability syndrome disorder

721878003Microphthalmia with brain and digit anomaly disorder

720010009Microphthalmia with brain atrophy syndrome disorder

721879006Microphthalmia with linear skin defect syndrome disorder

778021002Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome 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

1237514002Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome disorder

1779005Mohr syndrome disorder

719843001Morava Mehes syndrome disorder

703535000Mowat-Wilson syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

787407003Muenke syndrome disorder

253828000Mullerian aplasia disorder

716111003Mullerian duct and limb anomalies syndrome disorder

766992008Multicentric carpotarsal osteolysis syndrome disorder

716868003Multicentric osteolysis nodulosis arthropathy spectrum disorder

723409007Multinodular goitre, cystic kidney, polydactyly syndrome disorder

785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder

773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder

254044004Multiple congenital exostosis disorder

111306001Multiple lentigines syndrome disorder

1208486005Multiple mitochondrial dysfunctions syndrome type 2 disorder

1279891002Multiple mitochondrial dysfunctions syndrome type 6 disorder

205819008Multiple pterygium syndrome disorder

782724001Multisystemic smooth muscle dysfunction syndrome disorder

773584001Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome disorder

699316006Myhre syndrome disorder

723410002N syndrome disorder

1237462006NDE1-related microhydranencephaly 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

22199006Nail-patella syndrome disorder

445257004Nance-Horan syndrome disorder

723411003Nasopalpebral lipoma coloboma syndrome disorder

716170005Nathalie syndrome disorder

723439002Native American myopathy disorder

763839005Neonatal Marfan syndrome disorder

1222662000Neonatal epileptic encephalopathy due to glutaminase deficiency disorder

724092009Nephrosis, deafness, urinary tract, digital malformation syndrome disorder

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

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

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

724091002Neuroectodermal melanolysosomal disease disorder

725908007Neurofaciodigitorenal syndrome disorder

1373563007Neuronal ceroid lipofuscinosis type 1 disorder

1375924007Neuronal ceroid lipofuscinosis type 10 disorder

1373561009Neuronal ceroid lipofuscinosis type 2 disorder

1373771009Neuronal ceroid lipofuscinosis type 5 disorder

1373773007Neuronal ceroid lipofuscinosis type 6 disorder

1373770005Neuronal ceroid lipofuscinosis type 8 disorder

401046009Nicolaides-Baraitser syndrome disorder

33979003Nievergelt's syndrome disorder

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

723441001Non-progressive cerebellar ataxia with intellectual disability disorder

1187038009Non-specific syndromic intellectual disability disorder

783143001Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia disorder

723444009Noonan syndrome-like disorder with loose anagen hair disorder

205824006Noonan's syndrome disorder

782879004Occipital pachygyria and polymicrogyria disorder

1172586007Ocular anomalies, axonal neuropathy, developmental delay syndrome disorder

405809000Ocular motor apraxia Cogan type disorder

205802006Oculo-palato-digital syndrome disorder

763815000Oculoauricular syndrome Schorderet type disorder

716174001Oculocerebral hypopigmentation syndrome of Preus type disorder

1255268002Oculocerebrodental syndrome disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

699300009Oculofaciocardiodental syndrome disorder

722060007Oculogastrointestinal muscular dystrophy disorder

722061006Oculoosteocutaneous syndrome disorder

722019000Oculootoradial syndrome disorder

722055008Oculopalatocerebral syndrome disorder

722062004Oculotrichodysplasia disorder

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

239028001Odontotrichomelic syndrome disorder

699297004Ohdo syndrome, Maat-Kievit-Brunner type disorder

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

41962002Oligohydramnios sequence disorder

719944006Oliver McFarlane syndrome disorder

721017000Oliver syndrome disorder

725164008Omodysplasia disorder

703403003Ophthalmo-acromelic syndrome disorder

715484003Ophthalmomandibulomelic dysplasia disorder

81771002Opitz-Frias syndrome disorder

770723007Optic atrophy, intellectual disability syndrome disorder

763837007Oro-facial digital syndrome type 14 disorder

722105002Oro-facial digital syndrome type 5 disorder

722106001Oro-facial digital syndrome type 8 disorder

718680001Oro-facial digital syndrome type 9 disorder

239030004Orofacial-digital syndrome III disorder

239031000Orofacial-digital syndrome IV disorder

21877004Osler haemorrhagic telangiectasia syndrome disorder

722109008Osteocraniostenosis disorder

1234828008Osteofibrous dysplasia disorder

1003379004Osteogenesis imperfecta type 5 disorder

385482004Osteogenesis imperfecta type I disorder

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

732954002Osteopenia, intellectual disability, sparse hair syndrome disorder

1926006Osteopetrosis disorder

722113001Osteoporosis and oculocutaneous hypopigmentation syndrome disorder

733064004Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome disorder

49347007Osteosclerosis disorder

722117000Osteosclerosis, developmental delay, craniosynostosis syndrome disorder

441944007Oto-onycho-peroneal syndrome disorder

1237343009Otodental syndrome disorder

784010006Otopalatodigital syndrome spectrum disorder disorder

254060000Otospondylomegaepiphyseal dysplasia disorder

722122000Overgrowth, macrocephaly, facial dysmorphism syndrome disorder

724576005P5PD developmental and epileptic encephalopathy disorder

1367655003PAICS deficiency disorder disorder

716706009PCDH19 clustering epilepsy disorder

1228871002PCNA-related progressive neurodegenerative photosensitivity syndrome disorder

723453002PHAVER syndrome disorder

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

1217367007PLAA-associated neurodevelopmental disorder disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

702356009PPM-X syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

722859001PTEN hamartoma tumour syndrome disorder

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

1237421000PYCR2-related microcephaly, progressive leucoencephalopathy disorder

763861000Pachygyria, intellectual disability, epilepsy syndrome disorder

39427000Pachyonychia congenita syndrome disorder

719020006Pallister W syndrome disorder

239076000Palmoplantar hyperkeratosis sclerodactyly syndrome disorder

724224007Palmoplantar keratoderma with clinodactyly syndrome disorder

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

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

722207000Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome disorder

774071007Pancytopenia with developmental delay syndrome disorder

40158001Papillon-Lefèvre syndrome disorder

722210007Parastremmatic dwarfism disorder

771338002Parietal foramina with clavicular hypoplasia disorder

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

719044008Partial pancreatic agenesis disorder

702412005Partington syndrome disorder

722211006Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome disorder

724069009Patterson Stevenson Fontaine syndrome disorder

64855000Pelizaeus-Merzbacher disease disorder

719298001Pelvis shoulder dysplasia disorder

719299009Pelviscapular dysplasia disorder

70348004Pendred's syndrome disorder

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

816068000Periventricular nodular heterotopia disorder

722231005Perlman syndrome disorder

724067006Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome disorder

716191002Perniola Krajewska Carnevale syndrome disorder

721970009Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome disorder

702358005Persistent Müllerian duct syndrome disorder

449817000Peters plus syndrome disorder

719139003Pettigrew syndrome disorder

723454008Phosphoribosylpyrophosphate synthetase superactivity disorder

773984007Piebald trait with neurologic defects syndrome disorder

718122005Piebaldism disorder

1220594007Pierpont syndrome disorder

723461007Pierre Robin sequence faciodigital anomaly syndrome disorder

723449004Pierson syndrome disorder

1230005002Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome disorder

723451000Pili torti onychodysplasia syndrome disorder

771240009Pilodental dysplasia, refractive errors syndrome disorder

702344008Pitt-Hopkins syndrome disorder

771186004Poikiloderma, alopecia, retrognathism, cleft palate syndrome disorder

28770003Polycystic kidney disease, infantile type disorder

702347001Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy disorder

733087007Polydactyly myopia syndrome disorder

725409009Polydactyly of biphalangeal thumb disorder

723446006Polydactyly of index finger disorder

715710001Polydactyly of triphalangeal thumb disorder

1260449002Polyendocrine polyneuropathy syndrome disorder

1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder

1208935007Polymicrogyria due to TUBB2B mutation disorder

771336003Polymicrogyria with optic nerve hypoplasia disorder

724066002Polysyndactyly and cardiac malformation syndrome disorder

723448007Polyvalvular heart disease syndrome disorder

773627004Porencephaly, microcephaly, bilateral congenital cataract syndrome disorder

715704001Postaxial polydactyly type A disorder

715707008Postaxial polydactyly type B disorder

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

773279006Postaxial polydactyly, dental, vertebral anomalies syndrome disorder

770946000Postaxial tetramelic oligodactyly disorder

724064004Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome disorder

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

1173998003Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome disorder

733088002Preaxial polydactyly, colobomata, intellectual disability syndrome disorder

719140001Prieto Badia Mulas syndrome disorder

719282008Primary ciliary dyskinesia and retinitis pigmentosa syndrome disorder

1231153007Primary failure of tooth eruption disorder

718717004Primary immunodeficiency syndrome due to p14 deficiency disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

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

773644000Progeroid and marfanoid aspect, lipodystrophy syndrome disorder

1208481000Progressive cerebello-cerebral atrophy disorder

715529009Progressive deafness with stapes fixation disorder

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

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

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

23150001Proteus syndrome disorder

5187006Prune belly syndrome disorder

254058002Pseudodiastrophic dysplasia disorder

58833000Pseudohypoparathyroidism type I A disorder

733086003Pseudoprogeria syndrome disorder

724039002Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency disorder

719256004Pterygium colli with intellectual disability and digital anomaly syndrome disorder

771263004Ptosis and vocal cord paralysis syndrome disorder

726619004Ptosis, strabismus, ectopic pupil syndrome disorder

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

721887007Puerto Rican infant hypotonia syndrome disorder

233718008Pulmonary tuberous sclerosis disorder

719258003Pyknoachondrogenesis disorder

27837003Pyle metaphyseal dysplasia disorder

734434007Pyridoxine-dependent developmental and epileptic encephalopathy disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

772225005RAB18 deficiency disorder

702413000RAPADILINO syndrome disorder

1220600004RARS-related autosomal recessive hypomyelinating leucodystrophy disorder

1172624000RERE-related neurodevelopmental syndrome disorder

723999009RHYNS syndrome disorder

783099001RIDDLE syndrome disorder

85589009Radial aplasia-thrombocytopenia syndrome disorder

766765009Radio-renal syndrome disorder

721882001Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome disorder

389239007Raine dysplasia disorder

723504000Ramos Arroyo syndrome disorder

773772001Rare non-syndromic intellectual disability disorder

715471007Reardon Hall Slaney syndrome disorder

723500009Recessive aplasia cutis congenita of limbs disorder

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

715472000Reinhardt Pfeiffer mesomelic dysplasia disorder

446449009Renal coloboma syndrome disorder

763891005Renal hepatic pancreatic dysplasia disorder

699669001Renpenning syndrome disorder

764452004Retinal arterial macroaneurysm with supravalvular pulmonic stenosis disorder

723503006Retinal degeneration, nanophthalmos, glaucoma syndrome disorder

703542000Retinal detachment and occipital encephalocoele disorder

1172605003Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome disorder

724001005Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome disorder

1220597000Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome disorder

57838006Retinitis pigmentosa-deafness syndrome disorder

68618008Rett syndrome disorder

56692003Rhizomelic chondrodysplasia punctata syndrome disorder

770948004Rhizomelic syndrome Urbach type disorder

782941005Richieri Costa-da Silva syndrome disorder

47507006Rieger syndrome disorder

48718006Roberts-SC phocomelia syndrome disorder

76520005Robinow syndrome disorder

773404000Roifman syndrome disorder

765093009Rolandic epilepsy, speech dyspraxia syndrome disorder

95243004Rolland-Debuqois syndrome disorder

69093006Rothmund-Thomson syndrome disorder

45582004Rubinstein-Taybi syndrome disorder

723720008SERKAL syndrome disorder

1172632008SIX2-related frontonasal dysplasia disorder

1367656002SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome disorder

698851003SOX2 anophthalmia syndrome disorder

723581006STAR syndrome disorder

1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder

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

83015004Saethre-Chotzen syndrome disorder

716094008Saito Kuba Tsuruta syndrome disorder

254092004Saldino-Mainzer dysplasia disorder

1197148005Sanjad Sakati syndrome disorder

726629006Scalp defect postaxial polydactyly syndrome disorder

721888002Scalp, ear, nipple syndrome disorder

721902002Schilbach Rott syndrome disorder

723995003Schimke immuno-osseous dysplasia disorder

715522000Schinzel phocomelia syndrome disorder

18899000Schinzel-Giedion syndrome disorder

716092007Schmitt Gillenwater Kelly syndrome disorder

722002002Scholte syndrome disorder

29145002Schwartz-Jampel syndrome disorder

700062000Schöpf-Schulz-Passarge syndrome disorder

57917004Seckel syndrome disorder

715464002Seemanova Lesny 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

716243005Sellars Beighton syndrome disorder

720345008Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

46804001Severe X-linked myotubular myopathy disorder

720853005Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome disorder

774211005Severe dermatitis, multiple allergies, metabolic wasting syndrome disorder

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

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

778011005Severe intellectual disability and progressive spastic paraplegia 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

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

774149004Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements 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

771303004Severe neonatal onset encephalopathy with microcephaly disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

721069005Short fifth metacarpal insulin resistance syndrome disorder

205484001Short rib polydactyly syndrome disorder

766817004Short stature due to growth hormone secretagogue receptor deficiency disorder

721074002Short stature due to primary acid labile subunit deficiency disorder

726734001Short stature locking fingers syndrome disorder

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

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

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

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

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

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

721075001Short tarsus with absence of lower eyelashes syndrome disorder

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

789777007Short-limb skeletal dysplasia with severe combined immunodeficiency disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

716230005Shprintzen Goldberg omphalocele syndrome disorder

89454001Shwachman syndrome disorder

278991002Sialic storage disease disorder

721076000Siegler Brewer Carey syndrome disorder

439143004Simpson-Golabi-Behmel syndrome disorder

254114000Singleton-Merten syndrome disorder

770784003Sinoatrial node dysfunction and deafness disorder

733095006Skeletal dysplasia brachydactyly syndrome disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

722478008Skeletal dysplasia with intellectual disability syndrome disorder

778010006Skin fragillity, woolly hair, palmoplantar keratoderma syndrome disorder

715862006Smith McCort dysplasia disorder

702416008Snyder-Robinson syndrome disorder

771516000Solute carrier family 35 member A2 congenital disorder of glycosylation disorder

715987000Sonoda syndrome disorder

75968004Sotos' syndrome disorder

763669001Spastic ataxia with congenital miosis disorder

1255323007Spastic ataxia, dysarthria due to glutaminase deficiency disorder

1360070001Spastic paraparesis, cataracts, speech delay syndrome disorder

732958004Spastic paraplegia with precocious puberty syndrome disorder

733455003Spastic paraplegia, glaucoma, intellectual disability syndrome disorder

1260134001Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome disorder

722209002Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome disorder

1187278006Spastic paraplegia, severe developmental delay, epilepsy syndrome disorder

723621000Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome disorder

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

723612001Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome disorder

733033001Spinocerebellar ataxia dysmorphism syndrome disorder

719255000Spinocerebellar ataxia type 34 disorder

726724005Splenogonadal fusion, limb defect, micrognathia syndrome disorder

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

716231009Spondylocamptodactyly 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

763885008Spondyloepimetaphyseal dysplasia Handigodu type disorder

717330004Spondyloepimetaphyseal dysplasia Irapa type disorder

719171005Spondyloepimetaphyseal dysplasia Missouri 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

766820007Spondyloepimetaphyseal dysplasia with multiple dislocations disorder

702350003Spondyloepimetaphyseal dysplasia, Strudwick type disorder

773300008Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome disorder

766821006Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification 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

51952004Spondyloepiphyseal dysplasia tarda 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

784006008Spondylometaphyseal dysplasia disorder

702339001Spondyloperipheral dysplasia disorder

719305006Stapes ankylosis with broad thumb and toe syndrome disorder

719306007Steatocystoma multiplex with natal tooth syndrome disorder

1197589000Steel syndrome disorder

716233007Steinfeld syndrome disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

723584003Stern Lubinsky Durrie syndrome disorder

723583009Steroid dehydrogenase deficiency and dental anomaly syndrome disorder

78675000Stickler syndrome disorder

783097004Stickler syndrome type 3 disorder

1187120008Stromme syndrome disorder

783096008Subaortic stenosis and short stature syndrome disorder

1187132007Sugarman brachydactyly disorder

1162837001Symphalangism Cushing type disorder

732955001Symphalangism with multiple anomalies of hands and feet syndrome disorder

715442006Syndactyly of fingers type 8 disorder

715723008Syndactyly type 1 disorder

715724002Syndactyly type 2 disorder

715725001Syndactyly type 3 disorder

719158007Syndactyly type 4 disorder

719159004Syndactyly type 5 disorder

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

719161008Syndromic X-linked intellectual disability due to JARID1C mutation disorder

718900002Syndromic X-linked intellectual disability type 11 disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

718761007Syndromic microphthalmia type 5 disorder

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

717337001Syndromic orbital border hypoplasia disorder

725911008TARP syndrome disorder

1172628002TBCK-related intellectual disability syndrome disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

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

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

1169359006Tall stature, intellectual disability, renal anomalies syndrome disorder

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

723580007Talo-patello-scaphoid osteolysis syndrome disorder

702312009Tarsal-carpal coalition syndrome disorder

771265006Teebi Shaltout syndrome disorder

719946008Tel Hashomer camptodactyly syndrome disorder

725140007Temple Baraitser syndrome disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

719947004Temtamy syndrome disorder

702313004Tetra-amelia syndrome disorder

716249009Tetraamelia with multiple malformation syndrome disorder

770945001Tetramelic monodactyly disorder

773281008Thakker Donnai syndrome disorder

722476007Thickened earlobe with conductive deafness syndrome disorder

716740009Thomas syndrome disorder

716192009Thong Douglas Ferrante syndrome disorder

782951006Thoracic dysplasia and hydrocephalus syndrome disorder

723556008Thoracolaryngopelvic dysplasia disorder

783003009Thoracomelic dysplasia disorder

771511005Thrombocythaemia with distal limb defect disorder

733117001Thumb stiffness, brachydactyly, intellectual disability syndrome disorder

723555007Thymic, renal, anal, lung dysplasia syndrome disorder

715531000Tibial aplasia and ectrodactyly syndrome disorder

699256006Timothy syndrome type 1 disorder

719907006Timothy syndrome type 2 disorder

722477003Toriello Carey syndrome disorder

771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome disorder

204745000Total intestinal aganglionosis disorder

82203000Treacher Collins syndrome disorder

766812005Trichodysplasia xeroderma syndrome disorder

766813000Trichoodontoonychial dysplasia disorder

818959006Trichorhinophalangeal syndrome type 1 and 3 disorder

723551003Trichothiodystrophy disorder

719949001Trigonocephaly with broad thumb syndrome disorder

733066002Trigonocephaly, short stature, developmental delay syndrome disorder

1285322008Triopia disorder

733456002Triphalangeal thumb and dislocation of patella syndrome disorder

719950001Triphalangeal thumb and polysyndactyly syndrome disorder

719951002Triphalangeal thumb with brachyectrodactyly syndrome disorder

61665008Turcot syndrome disorder

1003444000Type 3 lissencephaly disorder

719840003Ulbright Hodes syndrome disorder

715242008Ulna metaphyseal dysplasia syndrome disorder

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

719041000Upington disease disorder

716110002Upper limb defect with eye and ear abnormalities syndrome disorder

716334004Urban Rogers Meyer syndrome disorder

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

719043002VACTERL syndrome with hydrocephalus disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder

733110004Van den Bosch syndrome disorder

763616002Velofacioskeletal 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

719019000WT limb blood syndrome disorder

715952000Waardenburg Shah syndrome disorder

702829000Warsaw breakage syndrome disorder

726670008Weaver Williams syndrome disorder

715988005Wellesley Carman French syndrome disorder

51626007Werner syndrome disorder

763619009White forelock with malformations syndrome disorder

763618001Wiedemann Steiner syndrome disorder

719834005Wilson Turner syndrome disorder

1187122000Witteveen Kolk syndrome disorder

816067005Woodhouse Sakati syndrome disorder

238875009Wrinkly skin syndrome disorder

234533006X-linked agammaglobulinaemia with growth hormone deficiency disorder

57536002X-linked asexual dwarfism disorder

782786001X-linked calvarial hyperostosis disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

766761000X-linked cleft palate and ankyloglossia disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

1010628009X-linked congenital generalised hypertrichosis disorder

719837003X-linked dominant chondrodysplasia Chassaing Lacombe type disorder

717223008X-linked epilepsy with learning disability and behaviour disorder syndrome disorder

1167372000X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome disorder

1172697000X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability disorder

71779008X-linked hydrocephalus syndrome disorder

719018008X-linked intellectual disability Abidi type disorder

719017003X-linked intellectual disability Armfield type disorder

719811001X-linked intellectual disability Cabezas type disorder

719016007X-linked intellectual disability Cantagrel type disorder

719013004X-linked intellectual disability Cilliers type disorder

726727003X-linked intellectual disability Hedera type disorder

719012009X-linked intellectual disability Miles Carpenter type disorder

726732002X-linked intellectual disability Nascimento type disorder

719011002X-linked intellectual disability Pai type disorder

719010001X-linked intellectual disability Schimke type disorder

718897009X-linked intellectual disability Seemanova type disorder

718905007X-linked intellectual disability Shrimpton type disorder

718908009X-linked intellectual disability Siderius type disorder

718909001X-linked intellectual disability Stevenson type disorder

718910006X-linked intellectual disability Stocco Dos Santos type disorder

718911005X-linked intellectual disability Stoll type disorder

718912003X-linked intellectual disability Turner type disorder

718914002X-linked intellectual disability Van Esch type disorder

719009006X-linked intellectual disability Wilson type disorder

719155005X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome disorder

719157002X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome disorder

783702009X-linked intellectual disability due to GRIA3 mutations disorder

1156584007X-linked intellectual disability hypotonic face syndrome disorder

719826004X-linked intellectual disability with acromegaly and hyperactivity syndrome disorder

718845002X-linked intellectual disability with ataxia and apraxia syndrome disorder

719136005X-linked intellectual disability with cerebellar hypoplasia syndrome disorder

719138006X-linked intellectual disability with cubitus valgus and dysmorphism syndrome disorder

719156006X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome disorder

422437002X-linked intellectual disability with marfanoid habitus disorder

719812008X-linked intellectual disability with plagiocephaly syndrome disorder

719810000X-linked intellectual disability with seizure and psoriasis syndrome disorder

773587008X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

773274001X-linked intellectual disability, craniofacioskeletal syndrome disorder

1237420004X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome disorder

1254654006X-linked intellectual disability, hypotonia, movement disorder syndrome disorder

732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder

719825000X-linked intellectual disability, macrocephaly, macroorchidism syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

1172692006X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome disorder

717632002X-linked lissencephaly with abnormal genitalia syndrome disorder

719813003X-linked mandibulofacial dysostosis disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

719815005X-linked myopathy with excessive autophagy disorder

718847005X-linked neurodegenerative syndrome Hamel type disorder

782785002X-linked osteoporosis with fractures disorder

448227009X-linked periventricular heterotopia disorder

718896000X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome disorder

715240000X-linked retinal dysplasia disorder

725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder

770603000X-linked spondyloepimetaphyseal dysplasia disorder

1162839003XK aprosencephaly syndrome disorder

7037003XTE syndrome disorder

733605002XY type gonadal dysgenesis with associated anomalies syndrome disorder

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

44600005Xeroderma pigmentosum disorder

1295529002Xp21 deletion syndrome disorder

782877002Xp22.13p22.2 duplication syndrome disorder

764711007Xq12-q13.3 duplication syndrome disorder

1229872004Xq25 microduplication syndrome disorder

773307006Zechi Ceide syndrome disorder

88469006Zellweger syndrome disorder

718880003Zellweger-like syndrome without peroxisomal anomaly disorder

716248001Zlotogora Ogur syndrome disorder

Developmental hereditary disorder

Parents (2)

Children (1441)