| children | - 11p15.4 microduplication syndrome 770794008
- 17q11 deletion syndrome 880093002
- 17q11.2 microduplication syndrome 719583002
- 17q23.1-q23.2 duplication syndrome 890110004
- 2p13.2 microdeletion syndrome 770756008
- 2p21 microdeletion syndrome 719652007
- 2p21 microdeletion syndrome without cystinuria 770754006
- 3-M syndrome 702342007
- 3-methylglutaconic aciduria type 9 1222672002
- 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 711409002
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 57514000
- 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001
- 3q27.3 microdeletion syndrome 770719004
- 3q29 microdeletion syndrome 716456000
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- 46,XX ovarian dysgenesis, short stature syndrome 1237345002
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 1231281009
- 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency 783092005
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome 783091003
- 46,XY partial gonadal dysgenesis 725045004
- 4H leukodystrophy 1208933000
- 5-amino-4-imidazole carboxamide ribosiduria 725289009
- 7p22.1 microduplication syndrome 764703002
- 8q13 microdeletion syndrome 724147004
- 8q24.3 microdeletion syndrome 1229895008
- Aase syndrome 71988008
- Ablepharon macrostomia syndrome 718575002
- Abruzzo Erickson syndrome 718574003
- Absence of fingerprints with congenital milia syndrome 719595002
- Absent radius, anogenital anomalies syndrome 771264005
- Absent thumb with short stature and immunodeficiency syndrome 719685004
- Absent tibia, polydactyly, arachnoid cyst syndrome 733068001
- Achalasia microcephaly syndrome 718573009
- Achondroplasia 86268005
- Achromatopsia 56852002
- Ackerman syndrome 722280000
- Acro-oto-ocular syndrome 720410001
- Acrocallosal syndrome 715951007
- Acrocapitofemoral dysplasia 720416007
- Acrocardiofacial syndrome 890221004
- Acrocephalopolydactyly 720417003
- Acrocephalopolysyndactyly type II 403767009
- Acrocephalopolysyndactyly type IV 733425005
- Acrocephalosyndactyly (Apert) 205258009
- Acrocephalosyndactyly type V 70410008
- Acrocraniofacial dysostosis 720418008
- Acrodysostosis 66758006
- Acrofacial dysostosis Catania type 720419000
- Acrofacial dysostosis Kennedy Teebi type 720427009
- Acrofacial dysostosis Palagonia type 720429007
- Acrofacial dysostosis Rodriguez type 720430002
- Acrofrontofacionasal dysostosis 720408003
- Acrofrontofacionasal dysostosis type 2 721835008
- Acrokeratosis verruciformis of Hopf 400085009
- Acromegaloid facial appearance syndrome 720456009
- Acromesomelic dysplasia Hunter-Thompson type 389167007
- Acromesomelic dysplasia Maroteaux type 718559000
- Acromicric dysplasia 254090007
- Acropectoral syndrome 720412009
- Acropectorovertebral dysplasia 720457000
- Acrorenal mandibular syndrome 720414005
- Acrorenal syndrome 720458005
- Acrorenoocular syndrome 720415006
- Adams-Oliver syndrome 34748004
- ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome 720464003
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Agnathia, holoprosencephaly, situs inversus syndrome 722283003
- AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 774068004
- Aicardi's syndrome 80651009
- Alacrima 253215004
- Albinism 15890002
- Albinotic fundus 55819001
- Allan-Herndon-Dudley syndrome 702327009
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections 239050000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome 720980004
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003
- Alstrom syndrome 63702009
- Amaurosis hypertrichosis syndrome 720983002
- Amelo-onycho-hypohidrotic syndrome 715404000
- Amelogenesis imperfecta 78494001
- Amish lethal microcephaly 702437000
- Androgen resistance syndrome 12313004
- Aneurysm osteoarthritis syndrome 785808002
- Angel-shaped phalangoepiphyseal dysplasia 720984008
- Aniridia and absent patella syndrome 720467005
- Aniridia and intellectual disability syndrome 720468000
- Aniridia, ptosis, intellectual disability, familial obesity syndrome 720987001
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- ANK3-related intellectual disability, sleep disturbance syndrome 787175002
- Ankylosing vertebral hyperostosis with tylosis syndrome 720492008
- Anonychia with microcephaly syndrome 720494009
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome 720495005
- Anophthalmia plus syndrome 720496006
- Antecubital pterygium syndrome 784351000
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome 1222706005
- Antley-Bixler syndrome 62964007
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome 763615003
- Aphalangy and syndactyly with microcephaly syndrome 720498007
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome 733118006
- Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
- Aplasia cutis congenita with epibulbar dermoid syndrome 723554006
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome 720500008
- Aplasia cutis with myopia syndrome 720499004
- Aplasia of lacrimal and salivary gland 715656004
- Arterial dissection and lentiginosis syndrome 720512007
- Arteriohepatic dysplasia 31742004
- Arts syndrome 702441001
- Ash leaf spot, tuberous sclerosis 254243001
- Asymmetric crying face association 51409009
- Ataxia with deafness and intellectual disability syndrome 720517001
- Ataxia-telangiectasia syndrome 68504005
- Atelosteogenesis 43814000
- Athabaskan brainstem dysgenesis syndrome 720518006
- Atkin Flaitz syndrome 718577005
- Atrial septal defect, atrioventricular conduction defect syndrome 725145002
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
- Atypical hypotonia cystinuria syndrome 778025006
- Atypical Rett syndrome 718393002
- Auriculo-condylar syndrome 702443003
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 771448004
- Autism spectrum disorder due to AUTS2 deficiency 771512003
- Autosomal dominant aplasia and myelodysplasia 778006008
- Autosomal dominant centronuclear myopathy 716696006
- Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation 1202024009
- Autosomal dominant familial wooly hair 403794008
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome 7731005
- Autosomal dominant hypophosphatemic bone disease 237890006
- Autosomal dominant mandibular prognathism 778069004
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome 1229999001
- Autosomal dominant palmoplantar keratoderma and congenital alopecia 719518004
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 765331004
- Autosomal dominant polycystic liver disease 890229002
- Autosomal dominant popliteal pterygium syndrome 718222000
- Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome 1187115008
- Autosomal dominant primary microcephaly 778070003
- Autosomal dominant spondylocostal dysostosis 716232002
- Autosomal recessive amelia 726735000
- Autosomal recessive asexual dwarfism 17192009
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
- Autosomal recessive cerebelloparenchymal disorder type 3 715369006
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 1186734006
- Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation 1202025005
- Autosomal recessive distal osteolysis syndrome 715487005
- Autosomal recessive dysgenesis of anterior segment of eye 1197358003
- Autosomal recessive facio-digito-genital syndrome 725434009
- Autosomal recessive familial wooly hair 403795009
- Autosomal recessive frontotemporal pachygyria 773394007
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 27025001
- Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome 770901001
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy 1222704008
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
- Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome 719104003
- Autosomal recessive popliteal pterygium syndrome 722376008
- Autosomal recessive primary microcephaly 715981004
- Axenfeld anomaly 204152008
- Ballard syndrome 722298001
- Baller-Gerold syndrome 77608001
- Bamforth Lazarus syndrome 722375007
- Banki syndrome 733093004
- Bardet-Biedl syndrome 5619004
- Basel Vanagaite Smirin Yosef syndrome 1187644009
- Beckwith-Wiedemann syndrome 81780002
- Beemer Ertbruggen syndrome 717859007
- Benign congenital myopathy 193222002
- Beta-D-mannosidosis 238047006
- Bifid nose 787413007
- Bilateral frontoparietal polymicrogyria 890286007
- Bilateral microtia with deafness and cleft palate syndrome 717909004
- Blepharocheilodontic syndrome 717911008
- Blepharonasofacial malformation syndrome 717913006
- Blepharophimosis, intellectual disability syndrome, Verloes type 778009001
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome 717914000
- Blepharoptosis, myopia, ectopia lentis syndrome 717915004
- Blomstrand dysplasia 389237009
- Blue cone monochromatism 789676005
- Boder syndrome 716180009
- Boichis syndrome 717187000
- Bone dysplasia lethal Holmgren type 732249002
- Book syndrome 722296002
- Borjeson-Forssman-Lehmann syndrome 21634003
- Bosley Salih Alorainy syndrome 720567008
- Bowen-Conradi syndrome 711153001
- Brachydactyly and arterial hypertension syndrome 720568003
- Brachydactyly and distal symphalangism syndrome 732956000
- Brachydactyly and preaxial hallux varus syndrome 732957009
- Brachydactyly syndrome type B 389168002
- Brachydactyly type A1 715720006
- Brachydactyly type A2 720569006
- Brachydactyly type A3 890438002
- Brachydactyly type A4 715721005
- Brachydactyly type A5 720570007
- Brachydactyly type A6 715722003
- Brachydactyly type B2 770406002
- Brachydactyly type D 890439005
- Brachydactyly with syndactyly Zhao type 720572004
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brachyolmia 254088006
- Brachytelephalangic chondrodysplasia punctata 778067002
- Brachytelephalangy, facial dysmorphism, Kallmann syndrome 720574003
- Braddock syndrome 720575002
- Brain calcification Rajab type 720576001
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome 732961003
- Branchiogenic deafness syndrome 717944002
- Branchiooculofacial syndrome 449821007
- Branchiootic syndrome 764810000
- BRESEK syndrome 717945001
- BSG syndrome 719097002
- Bullous dystrophy macular type 725589005
- CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 1237417007
- CAMOS syndrome 726031001
- Campomelia Cumming type 720599002
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Camptodactyly syndrome Guadalajara type 1 720602007
- Camptodactyly syndrome Guadalajara type 2 720603002
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome 720600004
- Capillary malformation-arteriovenous malformation syndrome 703533007
- Cardiac anomaly and heterotaxy syndrome 720605009
- Cardiocranial syndrome Pfeiffer type 720606005
- Cardiomyopathy and renal anomaly syndrome 720610008
- Cardiospondylocarpofacial syndrome 720612000
- Carney complex 733491005
- Caroli syndrome 1237346001
- Carpotarsal osteochondromatosis 389272007
- CASK related intellectual disability 703389002
- Cataract and microcornea syndrome 722382006
- Cataract glaucoma syndrome 718851007
- Cataract, congenital heart disease, neural tube defect syndrome 726704006
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Catel Manzke syndrome 722383001
- Cenani Lenz syndrome 720633009
- Central core disease 43152001
- Cerebellar ataxia and ectodermal dysplasia 715371006
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebellar-facial-dental syndrome 1237475006
- Cerebellum agenesis with hydrocephaly 715990006
- Cerebral ventriculomegaly, cystic kidney disease 1216942009
- Cerebro-facio-thoracic dysplasia 720635002
- Cerebrofacioarticular syndrome 763353000
- Cerebrooculonasal syndrome 720855003
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- Char syndrome 703534001
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome 1179408008
- CHILD syndrome 17608003
- Chitty Hall Baraitser syndrome 716238003
- Choanal atresia with radial ray hypoplasia 232373003
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome 720640005
- Chondrodysplasia punctata Toriello type 715631005
- Chondrodysplasia punctata, X-linked dominant type 398958000
- Chondrodysplasia punctata, X-linked recessive type 254082007
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Chondrodysplasia with joint dislocations gPAPP type 782882009
- Choroideremia with deafness and obesity syndrome 717761005
- Christianson syndrome 702354007
- Chromosome Xp11.3 microdeletion syndrome 719808002
- Chromosome Xq27.3q28 duplication syndrome 718881004
- Chudley McCullough syndrome 773610007
- CK syndrome 773329005
- CLCN4-related X-linked intellectual disability syndrome 1172691004
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome 719456001
- Cleft lip retinopathy syndrome 732247000
- Cleft palate with short stature and vertebral anomaly syndrome 719466009
- Cleft palate, large ears, small head syndrome 763130006
- Cleidocranial dysostosis 65976001
- Cleidorhizomelic syndrome 719471002
- Cloverleaf skull with multiple congenital anomalies syndrome 717771007
- CNTNAP2-related developmental and epileptic encephalopathy 1230376005
- Cobblestone lissencephaly without muscular or ocular involvement 785299009
- Cockayne syndrome 21086008
- CODAS syndrome 717772000
- Cohen syndrome 56604005
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Colobomatous macrophthalmia with microcornea syndrome 1179296003
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005
- Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome 1197357008
- Combined deficiency of sialidase AND beta galactosidase 35691006
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Combined immunodeficiency, enteropathy spectrum 1197428008
- Combined oxidative phosphorylation defect type 23 1173036000
- Combined oxidative phosphorylation defect type 27 1172844009
- Combined oxidative phosphorylation defect type 39 1279845005
- Complex lethal osteochondrodysplasia 1228858000
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Congenital adrenal hyperplasia 237751000
- Congenital adrenal hypoplasia, X-linked 237764004
- Congenital blue dot cataract 204138006
- Congenital cataract microcornea with corneal opacity 1279837000
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital cataracts, facial dysmorphism and neuropathy 702433001
- Congenital cerebellar ataxia due to RNU12 mutation 1177169004
- Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration 715436007
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital dystrophia brevicollis 388981000
- Congenital fiber-type disproportion myopathy due to ACTA1 mutation 1208413008
- Congenital fiber-type disproportion myopathy due to MYH7 mutation 1209168005
- Congenital fiber-type disproportion myopathy due to TPM3 mutation 1208416000
- Congenital fiber-type disproportion myopathy due to ZAK mutation 1201964008
- Congenital hereditary endothelial dystrophy 417651000
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital Horner syndrome 770626007
- Congenital hypoplasia of ulna and intellectual disability syndrome 719842006
- Congenital hypoplasia of ulna and split foot syndrome 733030003
- Congenital ichthyosis of skin 13059002
- Congenital insensitivity to pain with severe intellectual disability 1237623009
- Congenital insensitivity to pain, anosmia, neuropathic arthropathy 1279831004
- Congenital intrauterine infection-like syndrome 722390006
- Congenital isolated onychodysplasia 1254893000
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Congenital myopathy with internal nuclei and atypical cores 764945007
- Congenital myopathy with myasthenic-like onset 763315005
- Congenital myopathy with reduced type 2 muscle fibers 1255274002
- Congenital nephrotic syndrome 48796009
- Congenital neutropenia, myelofibrosis, nephromegaly syndrome 775909002
- Congenital pontocerebellar hypoplasia type 1 718610008
- Congenital pontocerebellar hypoplasia type 10 782720005
- Congenital pontocerebellar hypoplasia type 2 715463008
- Congenital pontocerebellar hypoplasia type 3 718609003
- Congenital pontocerebellar hypoplasia type 4 718608006
- Congenital pontocerebellar hypoplasia type 5 718607001
- Congenital pontocerebellar hypoplasia type 6 718606005
- Congenital pontocerebellar hypoplasia type 7 718605009
- Congenital pontocerebellar hypoplasia type 8 718611007
- Congenital pontocerebellar hypoplasia type 9 775907000
- Congenital short costocoracoid ligament 725101002
- Congenital stationary night blindness 232061009
- Congenital sutural cataract 253226005
- Congenital vertebral, cardiac, renal anomalies syndrome 1260142000
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency 763318007
- Cono-spondylar dysplasia 766874001
- Cooks syndrome 720747002
- Cooper Jabs syndrome 720748007
- Coralliform cataract 890350009
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009
- Coxoauricular syndrome 732248005
- Coxopodopatellar syndrome 720752007
- Craniodiaphyseal dysplasia 205506004
- Craniodigital syndrome and intellectual disability syndrome 763665007
- Craniofacial conodysplasia syndrome 720754008
- Craniofacial deafness hand syndrome 702362004
- Craniofacial dysplasia osteopenia syndrome 773622005
- Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
- Craniofacial dyssynostosis syndrome 720755009
- Craniofacial ulnar renal syndrome 720756005
- Craniofrontonasal dysplasia 715421009
- Craniolenticulosutural dysplasia 725100001
- Craniomicromelic syndrome 725098001
- Cranioosteoarthropathy 720753002
- Craniosynostosis and dental anomalies syndrome 773332008
- Craniosynostosis and intracranial calcification syndrome 720816004
- Craniosynostosis Boston type 720817008
- Craniosynostosis fibular aplasia syndrome 732250002
- Craniosynostosis Philadelphia type 720818003
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome 720813007
- Craniosynostosis, anal anomaly, porokeratosis syndrome 720812002
- Craniosynostosis, microretrognathia, severe intellectual disability syndrome 1269224009
- Crisponi syndrome 725097006
- Crome syndrome 722381004
- Crouzon syndrome 28861008
- Cryptomicrotia brachydactyly syndrome 725096002
- Cryptophthalmos syndrome 204102004
- Curly hair, acral keratoderma, caries syndrome 763686007
- Curry-Hall syndrome 277807007
- Cutis gyrata syndrome of Beare and Stevenson 703528008
- Cyprus facial neuromusculoskeletal syndrome 732261005
- Cystic fibrosis with gastritis and megaloblastic anemia syndrome 720401009
- Cystic leukoencephalopathy without megalencephaly 720825005
- Czech dysplasia metatarsal type 720826006
- Dacryocystitis and osteopoikilosis syndrome 721082002
- Dandy-Walker malformation with postaxial polydactyly syndrome 733094005
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness craniofacial syndrome 716245003
- Deafness with onychodystrophy syndrome 773735007
- Deafness, enamel hypoplasia, nail defect syndrome 721085000
- Deafness, vitiligo, achalasia syndrome 733069009
- Deafness-dystonia-optic neuronopathy syndrome 702423009
- Dentin dysplasia 109492001
- Dentinogenesis imperfecta 196286005
- Dermatoleukodystrophy 733044009
- Dermatoosteolysis Kirghizian type 721090002
- Dermo-odonto dysplasia 721091003
- Desbuquois syndrome 254099008
- Desmin-related myofibrillar myopathy 770627003
- Desmosterolosis 709490002
- Developmental absence of tooth 234951001
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 782828005
- Developmental delay with autism spectrum disorder and gait instability 770790004
- Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004
- Developmental malformation, deafness, dystonia syndrome 721092005
- Diaphanospondylodysostosis 721094006
- Diaphragmatic defect, limb deficiency, skull defect syndrome 721095007
- Diaphyseal dysplasia 34643004
- Diaphyseal medullary stenosis with bone malignancy 389216001
- Diastrophic dysplasia 58561002
- Diencephalic mesencephalic junction dysplasia 766871009
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome 782737003
- Digital extensor muscle aplasia with polyneuropathy 771261002
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome 719451006
- Dislocation of hip and facial dysmorphism syndrome 763755009
- Distal limb deficiency with micrognathia syndrome 722429003
- DK phocomelia syndrome 719021005
- DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
- Doughnut lesion of calvaria and bone fragility syndrome 720598005
- Drash syndrome 236385009
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Duane retraction syndrome with congenital deafness 1230014007
- Dubin-Johnson syndrome 44553005
- Duplication of eyebrow and syndactyly syndrome 733070005
- Dyggve-Melchior-Clausen syndrome 82699004
- Dyschondrosteosis and nephritis syndrome 722433005
- Dyskeratosis congenita 74911008
- Dysmorphic sialidosis, congenital form 27642008
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Dysplasia epiphysealis hemimelica 205480005
- Dyssegmental dysplasia Silverman Handmaker type 765204000
- Ear, patella, short stature syndrome 703508009
- Early onset parkinsonism and intellectual disability syndrome 716107009
- Early-onset calcifying leukoencephalopathy, skeletal dysplasia 1222661007
- Early-onset epilepsy, intellectual disability, brain anomalies syndrome 1172627007
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008
- Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome 1236844002
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome 1172593006
- Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
- Ectodermal dysplasia and sensorineural deafness syndrome 732953008
- Ectodermal dysplasia syndactyly syndrome 771335004
- Ectodermal dysplasia trichoodontoonychial type 734018003
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
- Ectodermal dysplasia with natal teeth Turnpenny type 715576000
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Ectopia lentis et pupillae 419237004
- Ectopia lentis, chorioretinal dystrophy, myopia syndrome 722437006
- Ectrodactyly polydactyly syndrome 771177009
- EDICT syndrome 722439009
- Edinburgh malformation syndrome 771178004
- Ehlers-Danlos and osteogenesis imperfecta syndrome 733457006
- Ehlers-Danlos syndrome 398114001
- Emery Nelson syndrome 773768000
- Encephalopathy due to mitochondrial and peroxisomal fission defect 1236807002
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Enlarged parietal foramina 718099006
- Epibulbar lipodermoid, preauricular appendage, polythelia syndrome 1208480004
- Epidermolysis bullosa 61003004
- Epilepsy telangiectasia syndrome 733032006
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epileptic encephalopathy with global cerebral demyelination 726702005
- EVEN-plus syndrome 1260203008
- Exostosis, anetoderma, brachydactyly type E syndrome 733416004
- Extensor tendons of finger anomalies 782937006
- External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006
- Eye defects, arachnodactyly, cardiopathy syndrome 1208342001
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome 782949007
- Facial dysmorphism, conductive hearing loss, heart defect syndrome 763279007
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome 770728003
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Faciocardiorenal syndrome 723333000
- Fallot complex with intellectual disability and growth delay syndrome 723336008
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial adrenocortical hypoplasia 37495007
- Familial articular hypermobility syndrome 71322004
- Familial bicuspid aortic valve 770435005
- Familial caudal dysgenesis 722493007
- Familial cavitary optic disc anomaly 1197365006
- Familial congenital nasolacrimal duct obstruction 1230016009
- Familial digital arthropathy and brachydactyly syndrome 717192003
- Familial generalized lentiginosis 765195000
- Familial infantile gigantism 773645004
- Familial isolated congenital asplenia 726708009
- Familial isolated trichomegaly 764523004
- Familial male-limited precocious puberty 725295005
- Familial median cleft of upper and lower lip 718552009
- Familial omphalocele syndrome with facial dysmorphism 770900000
- Familial patent arterial duct 1179298002
- Familial penile hypospadias 716744000
- Familial progressive hyper and hypopigmentation 763368004
- Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome 1172636006
- Familial scaphocephaly syndrome McGillivray type 725030006
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency 1187040004
- Familial thoracic aortic aneurysm and aortic dissection 764965000
- Familial vesicoureteral reflux 763716008
- Familial x-linked hypophosphatemic vitamin D refractory rickets 82236004
- Fanconi's anemia 30575002
- FASTKD2-related infantile mitochondrial encephalomyopathy 778029000
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 1230303001
- Fatal congenital nonlysosomal heart glycogenosis 459062008
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
- Female restricted epilepsy with intellectual disability syndrome 716706009
- Fetal encasement syndrome 1220575002
- FG syndrome type 1 1237179007
- FGFR2-related bent bone dysplasia 778008009
- Fibrochondrogenesis 17144009
- Fibrous skin tumor of tuberous sclerosis 36025004
- Fibular aplasia and complex brachydactyly 715474004
- Fibular aplasia and ectrodactyly syndrome 720952001
- Filippi syndrome 720954000
- Fine Lubinsky syndrome 720955004
- Flat face, microstomia, ear anomaly syndrome 773750003
- FLNA-related X-linked myxomatous valvular dysplasia 1186709006
- Floating-Harbor syndrome 312214005
- Focal dermal hypoplasia 205573006
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Focal facial dermal dysplasia type I 789157007
- Focal facial dermal dysplasia type II 789159005
- Focal facial dermal dysplasia type IV 789161001
- Folinic acid responsive seizure syndrome 717276003
- Fountain syndrome 720957007
- Foveal hypoplasia with presenile cataract syndrome 778042000
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome 782754006
- FOXG1 syndrome 702450004
- Fragile X syndrome 613003
- Francois syndrome 254150007
- Frank-Ter Haar syndrome 720958002
- FRAXE intellectual disability syndrome 716709002
- Fried syndrome 718848000
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 773628009
- Frontorhiny 1230021007
- Fryns macrocephaly 716108004
- Fryns syndrome 702432006
- Fuhrmann syndrome 721296004
- Gabriele-de Vries syndrome 1186730002
- Galloway Mowat syndrome 721297008
- Game Friedman Paradice syndrome 716198008
- GAPO syndrome 721843003
- Gardner syndrome 60876000
- GCGR-related hyperglucagonemia 1228875006
- GEMSS syndrome 722450007
- Genitopalatocardiac syndrome 773749003
- Genitopatellar syndrome 702367005
- Genochondromatosis type 1 1003427004
- Genochondromatosis type 2 725904009
- Geroderma osteodysplastica 254116003
- Ghosal hematodiaphyseal dysplasia 389214003
- Gingival fibromatosis with facial dysmorphism syndrome 719687007
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome 1172630000
- Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009
- Glomuvenous malformation 715644000
- Glycogenosis with glucoaminophosphaturia 61598006
- GM1 gangliosidosis 238025006
- GMS syndrome 716024001
- Gnathodiaphyseal dysplasia 715568002
- GNB5-related intellectual disability, cardiac arrhythmia syndrome 1186711002
- Goldberg Shprintzen megacolon syndrome 717822006
- Goldblatt Wallis syndrome 716096005
- Goldenhar syndrome 205418005
- Gollop syndrome 716022002
- Gollop Wolfgang complex 716006003
- Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004
- Gorlin-Chaudhry-Moss syndrome 205800003
- Grant syndrome 723827003
- Grebe syndrome 77542002
- Growth delay due to insulin-like growth factor I resistance 715625007
- Growth delay, intellectual disability, hepatopathy syndrome 1186713004
- Growth retardation, mild developmental delay, chronic hepatitis syndrome 774204006
- Grubben, De Cock, Borghgraef syndrome 763186006
- Guttmacher syndrome 722452004
- Haim Munk syndrome 719973009
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hallux varus, preaxial polysyndactyly syndrome 771180005
- Hand-foot-genital syndrome 702425002
- Hartsfield syndrome 766032007
- Haspeslagh Fryns Muelenaere syndrome 716090004
- Heart defect and limb shortening syndrome 721009008
- Heart-hand syndrome Slovenian type 721014007
- Heide syndrome 716189005
- Hemifacial hyperplasia strabismus syndrome 733046006
- Hennekam Beemer syndrome 722453009
- Hereditary acantholytic dermatosis 254217002
- Hereditary anetoderma 733467001
- Hereditary benign intraepithelial dyskeratosis 400014002
- Hereditary camptodactyly 238855000
- Hereditary clubbing 239055005
- Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome 733469003
- Hereditary cryohydrocytosis with reduced stomatin 782911008
- Hereditary elliptocytosis 191169008
- Hereditary hypotrichosis with recurrent skin vesicles syndrome 724350009
- Hereditary inclusion body myopathy type 4 770786001
- Hereditary isolated aplastic anemia 783255002
- Hereditary lymphedema 254199006
- Hereditary mucoepithelial dysplasia 403442005
- Hereditary neurocutaneous angiomata 403775003
- Hereditary progressive muscular dystrophy 193225000
- Hereditary splenic hypoplasia 302961007
- Hereditary vascular fragility 191329002
- Hidrotic ectodermal dysplasia Christianson Fourie type 771239007
- Hidrotic ectodermal dysplasia Halal type 721147000
- Hidrotic ectodermal dysplasia syndrome 54209007
- High bone mass osteogenesis imperfecta 782781006
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Hirschsprung disease with type D brachydactyly syndrome 721222007
- Holoprosencephaly and postaxial polydactyly syndrome 716091000
- Holt-Oram syndrome 19092004
- Holzgreve syndrome 783159001
- Hunter McAlpine craniosynostosis syndrome 721227001
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome 721229003
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hydrolethalus syndrome 721232000
- Hyperekplexia epilepsy syndrome 785726009
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hyperphosphatasemia with mental retardation 33982008
- Hypertelorism Teebi type 724284005
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypertrichosis cubiti 771181009
- Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome 718713000
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 773553003
- Hypohidrotic X-linked ectodermal dysplasia 239007005
- Hypomandibular faciocranial dysostosis 721845005
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Hypoplastic tibia and postaxial polydactyly syndrome 716741008
- Hypotonia, speech impairment, severe cognitive delay syndrome 763722004
- Hypotrichosis and intellectual disability syndrome Lopes type 723365002
- Hypotrichosis with juvenile macular degeneration syndrome 723364003
- Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome 763658004
- I-cell disease 70199000
- Immotile cilia syndrome 86204009
- Inclusion body myopathy 2 702382000
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 703544004
- Incontinentia pigmenti syndrome 367520004
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 770725000
- Infantile choroidocerebral calcification syndrome 724228005
- Infantile epileptic dyskinetic encephalopathy 771223000
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome 1217371005
- Infantile inflammatory bowel disease with neurological involvement 1186721005
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome 782886007
- Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome 1260129000
- Infundibulopelvic stenosis multicystic kidney syndrome 725905005
- Inherited arthrogryposis 28204005
- Inherited cutaneous hyperpigmentation 239079007
- Inherited cutis laxa 254220005
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 764960005
- Inherited renal tubule insufficiency with cholestatic jaundice 236482006
- Intellectual disability Buenos Aires type 725906006
- Intellectual disability with strabismus syndrome 773405004
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1217382002
- Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome 773581009
- Intellectual disability, epilepsy, bulbous nose syndrome 721146009
- Intellectual disability, epilepsy, extrapyramidal syndrome 1187210007
- Intellectual disability, expressive aphasia, facial dysmorphism syndrome 1197593006
- Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 782736007
- Intellectual disability, facial dysmorphism, hand anomalies syndrome 773416006
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome 787174003
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome 773621003
- Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome 763350002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Intellectual disability, spasticity, ectrodactyly syndrome 763743003
- Intestinal epithelial dysplasia 715669000
- Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome 1197592001
- Isolated anterior cervical hypertrichosis 717963001
- Isolated congenital adermatoglyphia 763748007
- Isolated congenital megalocornea 734026006
- Isolated cryptophthalmos 718691008
- Isolated hereditary congenital facial paralysis 733091002
- Isolated osteopoikilosis 1231182008
- Isolated right ventricular hypoplasia 718135001
- Isomerism of right atrial appendage 253336000
- Isotretinoin-like syndrome 722006004
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005
- Jackson-Weiss syndrome 709105005
- Jarcho-Levin syndrome 61367005
- Jawad syndrome 771470001
- Jervell and Lange-Nielsen syndrome 373905003
- Jeune thoracic dystrophy 75049004
- Johnson neuroectodermal syndrome 721584005
- Joubert syndrome 716997004
- Juberg Hayward syndrome 721874001
- Juvenile cataract, microcornea, renal glucosuria syndrome 722457005
- Kabuki make-up syndrome 313426007
- Kallman syndrome with heart disease 722027009
- Kapur Toriello syndrome 722031003
- Karandikar Maria Kamble syndrome 715989002
- Karsch Neugebauer syndrome 722032005
- Kawashima Tsuji syndrome 716112005
- KBG syndrome 711156009
- KCNQ2-related epileptic encephalopathy 778001003
- Keipert syndrome 763774001
- Keppen Lubinsky syndrome 1220589007
- Keutel syndrome 724208006
- King Denborough syndrome 764957003
- Kleefstra syndrome 724207001
- Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001
- Kniest dysplasia 53974002
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome 1271009
- Koolen De Vries syndrome 717338006
- L1 syndrome 716996008
- Laron syndrome with immunodeficiency 724179008
- Laron-type isolated somatotropin defect 38196001
- Larsen syndrome 63387002
- Laryngeal abductor paralysis with intellectual disability syndrome 724178000
- Laurence-Moon syndrome 232059000
- Lelis syndrome 719429003
- Lenz microphthalmia syndrome 438504004
- Leprechaunism syndrome 111307005
- Leri-Weill dyschondrosteosis 17818006
- Lethal arteriopathy syndrome due to fibulin-4 deficiency 782773005
- Lethal brain and heart developmental defects syndrome 1229876001
- Lethal faciocardiomelic dysplasia 719400000
- Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome 1237470001
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 1237342004
- Lethal hemolytic anemia and genital anomaly syndrome 719402008
- Lethal Kniest-like syndrome 93132001
- Lethal Larsen-like syndrome 719409004
- Lethal neonatal spasticity, epileptic encephalopathy syndrome 1197587003
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- Lethal omphalocele with cleft palate syndrome 719408007
- Lethal polymalformative syndrome Boissel type 778026007
- Lethal recessive chondrodysplasia 719404009
- Lethal tight skin contracture syndrome 400128006
- Leukoencephalopathy with metaphyseal chondrodysplasia syndrome 719405005
- Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome 773700005
- Leydig cell agenesis 56212008
- Liebenberg syndrome 764437006
- LIG4 syndrome 724177005
- Limb mammary syndrome 721972001
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation 718759003
- Lissencephaly syndrome Norman Roberts type 717977003
- Lissencephaly type 1 due to doublecortin gene mutation 715780008
- Lissencephaly type 3 familial fetal akinesia sequence syndrome 718719001
- Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007
- Long thumb brachydactyly syndrome 733454004
- Lowe syndrome 79385002
- Lowry MacLean syndrome 721974000
- Lowry Yong syndrome 716007007
- Lung agenesis with heart defect and thumb anomaly syndrome 721976003
- Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome 721977007
- Lymphedema and cerebral arteriovenous anomaly syndrome 721979005
- MacDermot Winter syndrome 716023007
- Macrocephaly and developmental delay syndrome 763773007
- Macrocephaly, intellectual disability, autism syndrome 783089006
- Macrocephaly, intellectual disability, left ventricular non compaction syndrome 1187642008
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005
- Macrosomia, microphthalmia, cleft palate syndrome 773282001
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Macular coloboma, cleft palate, hallux valgus syndrome 722463001
- Macular corneal dystrophy 60258001
- Majeed syndrome 703540008
- Malan overgrowth syndrome 763795006
- Male emopamil-binding protein disorder with neurological defect 782739000
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Mammary digital nail syndrome 718679004
- Mandibular hypoplasia, deafness, progeroid syndrome 773406003
- Mandibuloacral dysostosis 109419009
- Manitoba oculotrichoanal syndrome 703539006
- Mannosidosis 65524005
- MARCH syndrome 1169358003
- Marfanoid habitus with autosomal recessive intellectual disability syndrome 733062000
- Marfanoid syndrome De Silva type 732262003
- Marie Unna syndrome 254234005
- Marinesco-Sjögren syndrome 80734006
- Maroteaux-Lamy syndrome 69463008
- Marshall-Smith syndrome 73284007
- Matthew Wood syndrome 722458000
- McKusick Kaufman syndrome 702407009
- Megacystis, microcolon, hypoperistalsis syndrome 253781004
- Megalencephalic leukoencephalopathy with subcortical cysts 703536004
- Megalencephaly capillary malformation 700063005
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Megalocornea with intellectual disability syndrome 733522005
- Megalocornea, spherophakia, secondary glaucoma syndrome 783246000
- Mehes syndrome 716199000
- MEHMO syndrome 722037004
- Melnick-Fraser syndrome 290006
- Melorheostosis with osteopoikilosis 1197053003
- Menkes kinky-hair syndrome 59178007
- Mesoaxial synostotic syndactyly with phalangeal reduction syndrome 724170007
- Mesomelic dysplasia Kantaputra type 719397009
- Metachondromatosis 205481009
- Metaphyseal chondrodysplasia, McKusick type 7720002
- Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Metaphyseal dysplasia Braun Tinschert type 717221005
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome 724145007
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic osteodysplastic dysplasia Saul Wilson type 723404002
- Microcephalic osteodysplastic primordial dwarfism type II 1208348002
- Microcephalic osteodysplastic primordial dwarfism types I and III 725461009
- Microcephalic primordial dwarfism Alazami type 770564004
- Microcephalic primordial dwarfism Dauber type 770565003
- Microcephalic primordial dwarfism due to ZNF335 deficiency 724141003
- Microcephalic primordial dwarfism Toriello type 715482004
- Microcephalic primordial dwarfism, insulin resistance syndrome 1220596009
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus cleft palate syndrome 719394002
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus with cardiac defect and lung malsegmentation syndrome 719379001
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Microcephalus, complex motor and sensory axonal neuropathy syndrome 763798008
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Microcephalus, lymphedema, chorioretinopathy syndrome 733604003
- Microcephaly with cervical spine fusion anomaly 715462003
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome 1172683008
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome 1167375003
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome 1279889005
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome 721903007
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 771074000
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Microcephaly-capillary malformation syndrome 703369003
- Microcornea with corectopia and macular hypoplasia syndrome 716165003
- Microcornea with glaucoma and absent frontal sinus syndrome 716166002
- Microcornea, myopic chorioretinal atrophy, telecanthus syndrome 774212003
- Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome 1187114007
- Microlissencephaly micromelia syndrome 723405001
- Microphthalmia with ankyloblepharon and intellectual disability syndrome 717222003
- Microphthalmia with brain and digit anomaly 721878003
- Microphthalmia with brain atrophy syndrome 720010009
- Microphthalmia with linear skin defect syndrome 721879006
- Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome 778021002
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome 724139004
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis 715670004
- MIRAGE syndrome 1234831009
- Mirror hands and feet co-occurrent with nasal defect 715440003
- Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002
- Mohr syndrome 1779005
- MOMO syndrome 724137002
- Morava Mehes syndrome 719843001
- MORM syndrome 715628009
- Mowat-Wilson syndrome 703535000
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Mucopolysaccharidosis-like plus disease 1187113001
- Muenke syndrome 787407003
- Mullerian aplasia 253828000
- Mullerian duct and limb anomalies syndrome 716111003
- Multicentric carpotarsal osteolysis syndrome 766992008
- Multicentric osteolysis nodulosis arthropathy spectrum 716868003
- Multinodular goiter, cystic kidney, polydactyly syndrome 723409007
- Multiple congenital anomalies, hypotonia, seizures syndrome 785303004
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006
- Multiple congenital exostosis 254044004
- Multiple gastrointestinal atresias 95472001
- Multiple lentigines syndrome 111306001
- Multiple mitochondrial dysfunctions syndrome type 2 1208486005
- Multiple mitochondrial dysfunctions syndrome type 6 1279891002
- Multiple pterygium syndrome 205819008
- Multisystemic smooth muscle dysfunction syndrome 782724001
- Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 773584001
- Myhre syndrome 699316006
- N syndrome 723410002
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 764995008
- Nail-patella syndrome 22199006
- Nance-Horan syndrome 445257004
- Nasopalpebral lipoma coloboma syndrome 723411003
- Nathalie syndrome 716170005
- Native American myopathy 723439002
- NDE1-related microhydranencephaly 1237462006
- Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000
- Neonatal Marfan syndrome 763839005
- Nephrosis, deafness, urinary tract, digital malformation syndrome 724092009
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 1222710008
- Neuroectodermal melanolysosomal disease 724091002
- Neurofaciodigitorenal syndrome 725908007
- Neuronal ceroid lipofuscinosis 8 703526007
- Nicolaides-Baraitser syndrome 401046009
- Nievergelt's syndrome 33979003
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome 723442008
- Non-progressive cerebellar ataxia with intellectual disability 723441001
- Non-specific syndromic intellectual disability 1187038009
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 783143001
- Noonan syndrome-like disorder with loose anagen hair 723444009
- Noonan's syndrome 205824006
- NPHP3-related Meckel-like syndrome 773737004
- Occipital pachygyria and polymicrogyria 782879004
- Ocular anomalies, axonal neuropathy, developmental delay syndrome 1172586007
- Ocular motor apraxia Cogan type 405809000
- Oculo-palato-digital syndrome 205802006
- Oculoauricular syndrome Schorderet type 763815000
- Oculocerebral hypopigmentation syndrome of Preus type 716174001
- Oculocerebrodental syndrome 1255268002
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculofaciocardiodental syndrome 699300009
- Oculogastrointestinal muscular dystrophy 722060007
- Oculoosteocutaneous syndrome 722061006
- Oculootoradial syndrome 722019000
- Oculopalatocerebral syndrome 722055008
- Oculotrichodysplasia 722062004
- Odonto-tricho-ungual-digito-palmar syndrome 722063009
- Odontotrichomelic syndrome 239028001
- Ohdo syndrome, Maat-Kievit-Brunner type 699297004
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009
- Oligohydramnios sequence 41962002
- Oliver McFarlane syndrome 719944006
- Oliver syndrome 721017000
- Omodysplasia 725164008
- Ophthalmo-acromelic syndrome 703403003
- Ophthalmomandibulomelic dysplasia 715484003
- Opitz-Frias syndrome 81771002
- Optic atrophy, intellectual disability syndrome 770723007
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 8 722106001
- Oro-facial digital syndrome type 9 718680001
- Orofacial-digital syndrome III 239030004
- Orofacial-digital syndrome IV 239031000
- Osler hemorrhagic telangiectasia syndrome 21877004
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Osteocraniostenosis 722109008
- Osteofibrous dysplasia 1234828008
- Osteogenesis imperfecta type 5 1003379004
- Osteogenesis imperfecta type I 385482004
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Osteopetrosis 1926006
- Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001
- Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome 733064004
- Osteosclerosis 49347007
- Osteosclerosis, developmental delay, craniosynostosis syndrome 722117000
- Oto-onycho-peroneal syndrome 441944007
- Otodental syndrome 1237343009
- Otopalatodigital syndrome spectrum disorder 784010006
- Otospondylomegaepiphyseal dysplasia 254060000
- Overgrowth, macrocephaly, facial dysmorphism syndrome 722122000
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- Pachyonychia congenita syndrome 39427000
- Pallister W syndrome 719020006
- Palmoplantar hyperkeratosis sclerodactyly syndrome 239076000
- Palmoplantar keratoderma with clinodactyly syndrome 724224007
- Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome 722202006
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome 722206009
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Pancytopenia with developmental delay syndrome 774071007
- Papillon-Lefèvre syndrome 40158001
- Parastremmatic dwarfism 722210007
- Parietal foramina with clavicular hypoplasia 771338002
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001
- Partial pancreatic agenesis 719044008
- Partington syndrome 702412005
- Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome 722211006
- Patterson Stevenson Fontaine syndrome 724069009
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Pelizaeus-Merzbacher disease 64855000
- Pelvis shoulder dysplasia 719298001
- Pelviscapular dysplasia 719299009
- Pendred's syndrome 70348004
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Peripheral dysostosis 773985008
- Periventricular nodular heterotopia 816068000
- Perlman syndrome 722231005
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Perniola Krajewska Carnevale syndrome 716191002
- Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome 721970009
- Persistent Müllerian duct syndrome 702358005
- Peters plus syndrome 449817000
- Pettigrew syndrome 719139003
- PHAVER syndrome 723453002
- PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome 1208987006
- Phosphoribosylpyrophosphate synthetase superactivity 723454008
- Piebald trait with neurologic defects syndrome 773984007
- Piebaldism 718122005
- Pierpont syndrome 1220594007
- Pierre Robin sequence faciodigital anomaly syndrome 723461007
- Pierson syndrome 723449004
- Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome 1230005002
- Pili torti onychodysplasia syndrome 723451000
- Pili torti-deafness syndrome 67817003
- Pilodental dysplasia, refractive errors syndrome 771240009
- Pitt Hopkins-like syndrome 773699009 removed: 2022-06-30
- Pitt-Hopkins syndrome 702344008
- PLAA-associated neurodevelopmental disorder 1217367007
- PMP22-RAI1 contiguous gene duplication syndrome 1172899000
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Polycystic kidney disease, infantile type 28770003
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001
- Polydactyly myopia syndrome 733087007
- Polydactyly of biphalangeal thumb 725409009
- Polydactyly of index finger 723446006
- Polydactyly of triphalangeal thumb 715710001
- Polyendocrine polyneuropathy syndrome 1260449002
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome 1167371007
- Polymicrogyria due to TUBB2B mutation 1208935007
- Polymicrogyria with optic nerve hypoplasia 771336003
- Polysyndactyly and cardiac malformation syndrome 724066002
- Polyvalvular heart disease syndrome 723448007
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Postaxial polydactyly type A 715704001
- Postaxial polydactyly type B 715707008
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome 763866005
- Postaxial polydactyly, dental, vertebral anomalies syndrome 773279006
- Postaxial tetramelic oligodactyly 770946000
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome 724064004
- Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome 1269233006
- Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome 1173998003
- PPM-X syndrome 702356009
- Preaxial polydactyly, colobomata, intellectual disability syndrome 733088002
- Prieto Badia Mulas syndrome 719140001
- Primary ciliary dyskinesia and retinitis pigmentosa syndrome 719282008
- Primary failure of tooth eruption 1231153007
- Primary immunodeficiency syndrome due to p14 deficiency 718717004
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 782755007
- Progeroid and marfanoid aspect, lipodystrophy syndrome 773644000
- Progressive cerebello-cerebral atrophy 1208481000
- Progressive deafness with stapes fixation 715529009
- Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome 1260130005
- Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004
- Proteus syndrome 23150001
- Prune belly syndrome 5187006
- PRUNE1-related neurological syndrome 1222657001
- Pseudodiastrophic dysplasia 254058002
- Pseudohypoparathyroidism type I A 58833000
- Pseudoprogeria syndrome 733086003
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 724039002
- PTEN hamartoma tumor syndrome 722859001
- Pterygium colli with intellectual disability and digital anomaly syndrome 719256004
- Ptosis and vocal cord paralysis syndrome 771263004
- Ptosis, strabismus, ectopic pupil syndrome 726619004
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome 724016008
- Puerto Rican infant hypotonia syndrome 721887007
- Pulmonary tuberous sclerosis 233718008
- PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007
- PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
- Pyknoachondrogenesis 719258003
- Pyle metaphyseal dysplasia 27837003
- QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003
- RAB18 deficiency 772225005
- Radial aplasia-thrombocytopenia syndrome 85589009
- Radio-renal syndrome 766765009
- Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome 721882001
- Raine dysplasia 389239007
- Ramos Arroyo syndrome 723504000
- RAPADILINO syndrome 702413000
- Rare non-syndromic intellectual disability 773772001
- RARS-related autosomal recessive hypomyelinating leukodystrophy 1220600004
- Reardon Hall Slaney syndrome 715471007
- Recessive aplasia cutis congenita of limbs 723500009
- Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome 1172698005
- Reinhardt Pfeiffer mesomelic dysplasia 715472000
- Renal coloboma syndrome 446449009
- Renal hepatic pancreatic dysplasia 763891005
- Renpenning syndrome 699669001
- RERE-related neurodevelopmental syndrome 1172624000
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 764452004
- Retinal degeneration, nanophthalmos, glaucoma syndrome 723503006
- Retinal detachment and occipital encephalocele 703542000
- Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000
- Retinitis pigmentosa-deafness syndrome 57838006
- Rett syndrome 68618008
- Reunion Island Larsen-like syndrome 783559007 removed: 2021-07-31
- Rhizomelic chondrodysplasia punctata syndrome 56692003
- Rhizomelic syndrome Urbach type 770948004
- RHYNS syndrome 723999009
- Richieri Costa-da Silva syndrome 782941005
- RIDDLE syndrome 783099001
- Rieger syndrome 47507006
- Roberts-SC phocomelia syndrome 48718006
- Robinow syndrome 76520005
- Roifman syndrome 773404000
- Rolandic epilepsy, speech dyspraxia syndrome 765093009
- Rolland-Debuqois syndrome 95243004
- Rothmund-Thomson syndrome 69093006
- Rubinstein-Taybi syndrome 45582004
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Saethre-Chotzen syndrome 83015004
- Saito Kuba Tsuruta syndrome 716094008
- Saldino-Mainzer dysplasia 254092004
- Sanjad Sakati syndrome 1197148005
- Scalp defect postaxial polydactyly syndrome 726629006
- Scalp, ear, nipple syndrome 721888002
- Schilbach Rott syndrome 721902002
- Schimke immuno-osseous dysplasia 723995003
- Schinzel phocomelia syndrome 715522000
- Schinzel-Giedion syndrome 18899000
- Schmitt Gillenwater Kelly syndrome 716092007
- Scholte syndrome 722002002
- Schwartz-Jampel syndrome 29145002
- Seckel syndrome 57917004
- Seemanova Lesny syndrome 715464002
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome 721207002
- Seizures and intellectual disability due to hydroxylysinuria 723994004
- Seizures, scoliosis, macrocephaly syndrome 1187250005
- Sellars Beighton syndrome 716243005
- SERKAL syndrome 723720008
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome 720853005
- Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome 773400009
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004
- Severe intellectual disability and progressive spastic paraplegia 778011005
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome 773551001
- Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome 774149004
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome 773419004
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe myopia, generalized joint laxity, short stature syndrome 1217372003
- Severe neonatal onset encephalopathy with microcephaly 771303004
- Severe oculo-renal-cerebellar syndrome 1208341008
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome 720345008
- Severe X-linked intellectual disability Gustavson type 722213009
- Severe X-linked myotubular myopathy 46804001
- Short fifth metacarpal insulin resistance syndrome 721069005
- Short rib polydactyly syndrome 205484001
- Short stature due to growth hormone secretagogue receptor deficiency 766817004
- Short stature due to primary acid labile subunit deficiency 721074002
- Short stature locking fingers syndrome 726734001
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency 763890006
- Short stature with valvular heart disease and characteristic facies syndrome 716193004
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, advanced bone age, early-onset osteoarthritis syndrome 1197586007
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
- Short stature, developmental delay, congenital heart defect syndrome 1237512003
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome 723998001
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007
- Shprintzen Goldberg craniosynostosis syndrome 719069008
- Shprintzen Goldberg omphalocele syndrome 716230005
- Shwachman syndrome 89454001
- Sialic storage disease 278991002
- Siegler Brewer Carey syndrome 721076000
- Simpson-Golabi-Behmel syndrome 439143004
- Sinoatrial node dysfunction and deafness 770784003
- SIX2-related frontonasal dysplasia 1172632008
- Skeletal dysplasia brachydactyly syndrome 733095006
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Skeletal dysplasia with intellectual disability syndrome 722478008
- Skin fragility, wooly hair, palmoplantar keratoderma syndrome 778010006
- Smith McCort dysplasia 715862006
- Snyder-Robinson syndrome 702416008
- Solute carrier family 35 member A2 congenital disorder of glycosylation 771516000
- Sonoda syndrome 715987000
- Sotos' syndrome 75968004
- SOX2 anophthalmia syndrome 698851003
- Spastic ataxia with congenital miosis 763669001
- Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007
- Spastic paraplegia with precocious puberty syndrome 732958004
- Spastic paraplegia, glaucoma, intellectual disability syndrome 733455003
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome 1260134001
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome 722209002
- Spastic paraplegia, severe developmental delay, epilepsy syndrome 1187278006
- Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome 723621000
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome 1237418002
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome 723612001
- Spinocerebellar ataxia dysmorphism syndrome 733033001
- Spinocerebellar ataxia type 34 719255000
- Splenogonadal fusion, limb defect, micrognathia syndrome 726724005
- Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000
- Split hand, split foot malformation with sensorineural hearing loss syndrome 723611008
- Split-foot malformation, mesoaxial polydactyly syndrome 1172635005
- Spondylo-megaepiphyseal-metaphyseal dysplasia 773693005
- Spondylo-ocular syndrome 715653007
- Spondylocamptodactyly syndrome 716231009
- Spondylocarpotarsal synostosis syndrome 702351004
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Spondyloenchondrodysplasia with immune dysregulation 703523004
- Spondyloenchondromatosis 389268008
- Spondyloepimetaphyseal dysplasia aggrecan type 719165004
- Spondyloepimetaphyseal dysplasia anauxetic type 764460003
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Spondyloepimetaphyseal dysplasia Handigodu type 763885008
- Spondyloepimetaphyseal dysplasia Irapa type 717330004
- Spondyloepimetaphyseal dysplasia matrilin-3 type 719166003
- Spondyloepimetaphyseal dysplasia Missouri type 719171005
- Spondyloepimetaphyseal dysplasia PAPSS2 type 719172003
- Spondyloepimetaphyseal dysplasia Shohat type 719201004
- Spondyloepimetaphyseal dysplasia with joint laxity Beighton type 1286833006
- Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000
- Spondyloepimetaphyseal dysplasia with multiple dislocations 766820007
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006
- Spondyloepimetaphyseal dysplasia, Strudwick type 702350003
- Spondyloepiphyseal dysplasia Cantu type 718765003
- Spondyloepiphyseal dysplasia Kimberley type 719203001
- Spondyloepiphyseal dysplasia MacDermot type 718763005
- Spondyloepiphyseal dysplasia Maroteaux type 719204007
- Spondyloepiphyseal dysplasia Reardon type 718764004
- Spondyloepiphyseal dysplasia Stanescu type 1228860003
- Spondyloepiphyseal dysplasia tarda 51952004
- Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
- Spondylometaphyseal dysplasia 784006008
- Spondyloperipheral dysplasia 702339001
- Stapes ankylosis with broad thumb and toe syndrome 719305006
- STAR syndrome 723581006
- Steatocystoma multiplex with natal tooth syndrome 719306007
- Steel syndrome 1197589000
- Steinfeld syndrome 716233007
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Stern Lubinsky Durrie syndrome 723584003
- Steroid dehydrogenase deficiency and dental anomaly syndrome 723583009
- Stickler syndrome 78675000
- Stickler syndrome type 3 783097004
- Stromme syndrome 1187120008
- Subaortic stenosis and short stature syndrome 783096008
- Sugarman brachydactyly 1187132007
- Summitt syndrome 733606001
- Symphalangism Cushing type 1162837001
- Symphalangism with multiple anomalies of hands and feet syndrome 732955001
- Syndactyly of fingers type 8 715442006
- Syndactyly type 1 715723008
- Syndactyly type 2 715724002
- Syndactyly type 3 715725001
- Syndactyly type 4 719158007
- Syndactyly type 5 719159004
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008
- Syndromic microphthalmia type 5 718761007
- Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004
- Syndromic orbital border hypoplasia 717337001
- Syndromic X-linked intellectual disability due to JARID1C mutation 719161008
- Syndromic X-linked intellectual disability type 11 718900002
- Syndromic X-linked intellectual disability type 7 719160009
- SYNGAP1-related developmental and epileptic encephalopathy 1222656005
- Tall stature, intellectual disability, renal anomalies syndrome 1169359006
- Tall stature, scoliosis, macrodactyly of great toe syndrome 770788000
- Talo-patello-scaphoid osteolysis syndrome 723580007
- TARP syndrome 725911008
- Tarsal-carpal coalition syndrome 702312009
- TBCK-related intellectual disability syndrome 1172628002
- Teebi Shaltout syndrome 771265006
- Tel Hashomer camptodactyly syndrome 719946008
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- Temple Baraitser syndrome 725140007
- Temtamy preaxial brachydactyly syndrome 777998000
- Temtamy syndrome 719947004
- Tetra-amelia syndrome 702313004
- Tetraamelia with multiple malformation syndrome 716249009
- Tetramelic monodactyly 770945001
- Thakker Donnai syndrome 773281008
- Thickened earlobe with conductive deafness syndrome 722476007
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- Thomas syndrome 716740009
- Thong Douglas Ferrante syndrome 716192009
- Thoracic dysplasia and hydrocephalus syndrome 782951006
- Thoracolaryngopelvic dysplasia 723556008
- Thoracomelic dysplasia 783003009
- Thrombocythemia with distal limb defect 771511005
- Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Tibial aplasia and ectrodactyly syndrome 715531000
- Timothy syndrome type 1 699256006
- Timothy syndrome type 2 719907006
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
- Toriello Carey syndrome 722477003
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Total intestinal aganglionosis 204745000
- Treacher Collins syndrome 82203000
- Trichodysplasia xeroderma syndrome 766812005
- Trichoodontoonychial dysplasia 766813000
- Trichorhinophalangeal syndrome type 1 and 3 818959006
- Trichothiodystrophy 723551003
- Trigonocephaly with broad thumb syndrome 719949001
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- Triopia 1285322008
- Triphalangeal thumb and dislocation of patella syndrome 733456002
- Triphalangeal thumb and polysyndactyly syndrome 719950001
- Triphalangeal thumb with brachyectrodactyly syndrome 719951002
- Turcot syndrome 61665008
- Type 3 lissencephaly 1003444000
- Ulbright Hodes syndrome 719840003
- Ulna metaphyseal dysplasia syndrome 715242008
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004
- Upington disease 719041000
- Upper limb defect with eye and ear abnormalities syndrome 716110002
- Urban Rogers Meyer syndrome 716334004
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- VACTERL syndrome with hydrocephalus 719043002
- Van den Bosch syndrome 733110004
- Velofacioskeletal syndrome 763616002
- Vici syndrome 719824001
- Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome 719833004
- VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
- Waardenburg Shah syndrome 715952000
- WARS2-related combined oxidative phosphorylation defect 1260128008
- Warsaw breakage syndrome 702829000
- Weaver Williams syndrome 726670008
- Wellesley Carman French syndrome 715988005
- Werner syndrome 51626007
- White forelock with malformations syndrome 763619009
- Wiedemann Steiner syndrome 763618001
- Wilson Turner syndrome 719834005
- Witteveen Kolk syndrome 1187122000
- Woodhouse Sakati syndrome 816067005
- Wrinkly skin syndrome 238875009
- WT limb blood syndrome 719019000
- X-linked agammaglobulinemia with growth hormone deficiency 234533006
- X-linked asexual dwarfism 57536002
- X-linked calvarial hyperostosis 782786001
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked cleft palate and ankyloglossia 766761000
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked congenital generalized hypertrichosis 1010628009
- X-linked dominant chondrodysplasia Chassaing Lacombe type 719837003
- X-linked epilepsy with learning disability and behavior disorder syndrome 717223008
- X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome 1167372000
- X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 1172697000
- X-linked hydrocephalus syndrome 71779008
- X-linked intellectual disability Abidi type 719018008
- X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome 719155005
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome 719157002
- X-linked intellectual disability Armfield type 719017003
- X-linked intellectual disability Brooks type 725912001
- X-linked intellectual disability Cabezas type 719811001
- X-linked intellectual disability Cantagrel type 719016007
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability due to GRIA3 mutations 783702009
- X-linked intellectual disability Hedera type 726727003
- X-linked intellectual disability hypotonic face syndrome 1156584007
- X-linked intellectual disability Miles Carpenter type 719012009
- X-linked intellectual disability Nascimento type 726732002
- X-linked intellectual disability Pai type 719011002
- X-linked intellectual disability Schimke type 719010001
- X-linked intellectual disability Seemanova type 718897009
- X-linked intellectual disability Shrimpton type 718905007
- X-linked intellectual disability Siderius type 718908009
- X-linked intellectual disability Stevenson type 718909001
- X-linked intellectual disability Stocco Dos Santos type 718910006
- X-linked intellectual disability Stoll type 718911005
- X-linked intellectual disability Turner type 718912003
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability Wilson type 719009006
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability with ataxia and apraxia syndrome 718845002
- X-linked intellectual disability with cerebellar hypoplasia syndrome 719136005
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 719138006
- X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome 719156006
- X-linked intellectual disability with marfanoid habitus 422437002
- X-linked intellectual disability with plagiocephaly syndrome 719812008
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome 773587008
- X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, craniofacioskeletal syndrome 773274001
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
- X-linked intellectual disability, hypotonia, movement disorder syndrome 1254654006
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
- X-linked intellectual disability, macrocephaly, macroorchidism syndrome 719825000
- X-linked intellectual disability, short stature, overweight syndrome 1255335006
- X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome 1172692006
- X-linked lissencephaly with abnormal genitalia syndrome 717632002
- X-linked mandibulofacial dysostosis 719813003
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome 1197588008
- X-linked myopathy with excessive autophagy 719815005
- X-linked neurodegenerative syndrome Hamel type 718847005
- X-linked osteoporosis with fractures 782785002
- X-linked periventricular heterotopia 448227009
- X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome 718896000
- X-linked retinal dysplasia 715240000
- X-linked spasticity, intellectual disability, epilepsy syndrome 725163002
- X-linked spondyloepimetaphyseal dysplasia 770603000
- Xeroderma pigmentosum 44600005
- XK aprosencephaly syndrome 1162839003
- Xp21 deletion syndrome 1295529002
- Xp22.13p22.2 duplication syndrome 782877002
- Xq12-q13.3 duplication syndrome 764711007
- Xq25 microduplication syndrome 1229872004
- XTE syndrome 7037003
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
- XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007
- Zechi Ceide syndrome 773307006
- Zellweger syndrome 88469006
- Zellweger-like syndrome without peroxisomal anomaly 718880003
- Zlotogora Ogur syndrome 716248001
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