| children | - 17q24.2 microdeletion syndrome 1229873009
- 19p13.3 microduplication syndrome 1229883008
- 20q11.2 microdeletion syndrome 1229891004
- 21q22.11q22.12 microdeletion syndrome 787171006
- 3-methylglutaconic aciduria type 8 1222671009
- 9q21.13 microdeletion syndrome 1229875002
- Acrocephalosyndactyly 268262006
- Adenocarcinoma of pancreas with NRG1 fusion 1141626005
- Adult vitelliform macular dystrophy 232049001
- Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000
- Amyotrophic lateral sclerosis type 6 1204334005
- Amyotrophic lateral sclerosis type 7 1204349002
- Amyotrophic lateral sclerosis, parkinsonism, dementia complex 838276009
- Angelman syndrome 76880004
- Aprosencephaly cerebellar dysgenesis 1237366005
- Ataxia, photosensitivity, short stature syndrome 773769008
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome 1230295000
- Baraitser Winter cerebrofrontofacial syndrome 1258972007
- Barber-Say syndrome 408537003
- Blau syndrome 818950005
- Boomerang dysplasia 254054000
- Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome 1169355000
- Camptodactyly syndrome Guadalajara type 3 1172633003
- Capra DeMarco syndrome 720815000
- CELSR1-related late-onset primary lymphedema 1222668001
- Cerebro-costo-mandibular syndrome 51780007
- CHARGE association 47535005
- Chronic diarrhea with villous atrophy syndrome 734019006
- Clear cell sarcoma of kidney 1187464007
- Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome 1187039001
- Cloverleaf skull syndrome 254022009
- Coffin-Lowry syndrome 15182000
- Cogan-Reese syndrome 404633004
- Cole-Carpenter dysplasia 389199001
- Combined immunodeficiency with granulomatosis 783743009
- Complex multigenic autoinflammatory syndrome 1295181006
- Conductive deafness, malformed external ear syndrome 783742004
- Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome 1260140008
- Congenital fibrosis syndrome 400946004
- Congenital generalized hypercontractile muscle stiffness syndrome 1174000008
- Congenital hydrocephalus, low insertion of umbilicus syndrome 1208346003
- Congenital myopathy with fiber type disproportion 240084007
- Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome 1172589000
- Congenital primary lymphedema of Gordon 1222669009
- Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome 1177173001
- Congenital secretory diarrhea, sodium type 18805001
- Diaphragmatic hernia, short bowel, asplenia syndrome 1217373008
- Diffuse capillary malformation with overgrowth 1293116008
- DNA instability syndrome 402784007
- DYRK1A-related intellectual disability syndrome 1179301003
- Dysraphism, cleft lip and palate, limb reduction defect syndrome 1208338004
- Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004
- EPHB4-related lymphatic-related hydrops fetalis 1222666002
- Familial hematuria 399094007
- Familial hyperinsulinemic hypoglycemia 1296480005
- Familial isolated clinodactyly of finger 763691008
- Familial isolated retinal arterial tortuosity 1231183003
- Familial multiple lipomata 404063007
- Familial temporal lobe epilepsy 783739005
- Femur fibula ulna complex 1230098009
- Focal facial dermal dysplasia 789156003
- Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome 1177166006
- Fryns Smeets Thiry syndrome 1208344000
- Generalized glucocorticoid resistance syndrome 819950002
- Generalized pustular psoriasis 238612002
- Genetic defect of hair shaft 402774006
- Genetic disorder of nail 402775007
- Genetic disorder of skin pigmentation 724839001
- Genetic lipodystrophy 724841000
- Genetic non-syndromic obesity 1260139006
- GJC2-related late-onset primary lymphedema 1222670005
- GNAO1-related developmental delay, seizures, movement disorder spectrum 1281842000
- GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder 1260195002
- Hadziselimovic syndrome 719395001
- Hallermann Streiff like syndrome 1197057002
- Hallermann-Streiff syndrome 7903009
- Heart defect, tongue hamartoma, polysyndactyly syndrome 783738002
- Hemolytic uremic syndrome 111407006
- Hereditary disease 32895009
- Hirschsprung disease, ganglioneuroblastoma syndrome 783737007
- Humeroradioulnar synostosis 773733000
- Hyaline fibromatosis syndrome 1197494003
- Hypogonadism with anosmia 93559003
- Ichthyosis hystrix 67510007
- Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia 1197476009
- Inflammatory bowel disease, recurrent sinopulmonary infection syndrome 1186652002
- Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome 1186729007
- Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome 1177167002
- Isolated familial renal hypomagnesemia 48655003
- Joint contractures, developmental delay, Pierre Robin syndrome 1216940001
- Klippel-Feil sequence 5601008
- Kosaki overgrowth syndrome 1172898008
- Lamb Shaffer syndrome 1251453008
- Large congenital pigmented melanocytic nevus of skin 1260467009
- Lecithin cholesterol acyltransferase deficiency 238091006
- Lethal hydranencephaly, diaphragmatic hernia syndrome 1172705006
- Lissencephaly with cerebellar hypoplasia 715817007
- LRP5-related primary osteoporosis 1169364005
- Maffucci syndrome 46041001
- Male infertility of genetic origin 236792002
- Malignant hyperthermia 405501007
- Malignant melanoma with BRAF V600E mutation 830150003
- Malignant tumor of esophagus with NRG1 fusion 1144764001
- Mandibulofacial dysostosis with alopecia 1216943004
- Maturity-onset diabetes of the young 609561005
- Menke Hennekam syndrome 1260095004
- Mesomelic dysplasia Savarirayan type 715652002
- Metopic ridging, ptosis, facial dysmorphism syndrome 1179283004
- Microcystic renal disease 57088004
- Microphthalmia, microtia, fetal akinesia syndrome 1230344000
- Mixed gonadal dysgenesis 83579008
- Mixed sclerosing bone dystrophy with extra-skeletal manifestation 783723003
- MMEP syndrome 715533002
- Monogenic autoinflammatory syndrome 724593005
- Multiple endocrine neoplasia type 4 715907003
- Multiple endocrine neoplasia, type 1 30664006
- Multiple paraganglioma associated with polycythemia 1197217007
- Muscular dystrophy 73297009
- MYH9 related disease 712922002
- Myopathy and diabetes mellitus 783722008
- Nemaline myopathy 75072002
- Neurofibromatosis type 2 92503002
- Night blindness, skeletal anomalies, dysmorphism syndrome 1237228009
- Non syndromic camptodactyly of fingers 1163260008
- Non-small cell lung carcinoma with NRG1 fusion 1141627001
- Non-syndromic genetic hearing loss 1260199008
- Non-syndromic metopic craniosynostosis 1231181001
- Oral-facial-digital syndrome 52868006
- Osteogenesis imperfecta 78314001
- Osteoglophonic dysplasia 254144002
- Ovotesticular disorder of sex development 1234907000
- Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome 1172889005
- Pancreatic agenesis, holoprosencephaly syndrome 1222660008
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 1222667006
- Prader-Willi syndrome 89392001
- Prader-Willi-like syndrome 770680004
- Primary hypomagnesemia, refractory seizures, intellectual disability syndrome 1269236003
- Primary tethered cord syndrome 768939009
- Progressive supranuclear palsy 192976002
- Proximal myopathy with focal depletion of mitochondria 1197756002
- Radioulnar synostosis with microcephaly and scoliosis syndrome 719162001
- Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha 1260240000
- Rhizomelic dysplasia Patterson Lowry type 715505002
- RNF13-related severe early-onset epileptic encephalopathy 1222659003
- SATB2-associated syndrome 1208488006
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 787094005
- Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract 1179282009
- Short rib dysplasia 254050009
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome 1177175008
- Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion 786710002
- Solitary median maxillary central incisor syndrome 707609006
- STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome 1187041000
- Symptomatic form of Coffin-Lowry syndrome in female carrier 1237577000
- Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005
- Syndactyly, polydactyly, ear lobe syndrome 783700001
- Taurodontism 51744007
- Thin ribs, tubular bones, dysmorphism syndrome 783004003
- Timothy syndrome 1230096008
- TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome 1208998007
- Trinucleotide repeat disorder 792856002
- Tubulinopathy-associated dysgyria 1187215002
- WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome 1187247007
- Weismann Netter syndrome 715532007
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome 783703004
- Williams syndrome 63247009
- Winchester syndrome 254151006
- X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004
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