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 Digestive system diseases
 
 Urinary system diseases
 
 Reproductive system diseases
 
 Musculoskeletal diseases
 
 Skin diseases
 
 Congenital disorders of metabolism
 
 Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of eye
   Congenital malformations of ear
   Congenital malformations of face and neck
   Congenital malformations of the circulatory system
   Congenital malformations of the digestive system
   Congenital malformations of genital organs
   Congenital malformations of the urinary system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
     H00417  Alstrom syndrome
     H00433  Holt-Oram syndrome
     H00442  Campomelic dysplasia
     H00443  Osteoglophonic dysplasia
     H00446  Craniofacial-deafness-hand syndrome
     H00449  Oculodentodigital dysplasia
     H00451  Osteoporosis-pseudoglioma syndrome [PATH:hsa04310]
     H00453  Branchio-oto-renal syndrome
     H00454  Oral-facial-digital syndrome
     H02160  Craniosynostoses
     H00458  Syndromic craniosynostoses
     H01753  Antley-Bixler syndrome
     H01754  Crouzon syndrome
     H01755  Apert syndrome
     H01756  Pfeiffer syndrome
     H01988  Jackson-Weiss syndrome
     H01989  Beare-Stevenson syndrome
     H01990  Muenke syndrome
     H01991  Saethre-Chotzen syndrome
     H01992  Craniofrontonasal syndrome
     H01993  Baller-Gerold syndrome
     H00464  Nail-patella syndrome
     H00485  Robinow syndrome [PATH:hsa04310]
     H00492  SHOX-related short stature
     H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) [PATH:hsa00100]
     H00500  Keutel syndrome
     H00502  Pallister-Hall syndrome [PATH:hsa04340]
     H00504  Rubinstein-Taybi syndrome
     H00509  3M syndrome [PATH:hsa04120]
     H00510  Feingold syndrome
     H00526  Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
     H00543  Renal-hepatic-pancreatic dysplasia
     H00571  Johanson-Blizzard syndrome
     H00574  Coffin-Lowry syndrome [PATH:hsa04010 hsa04114]
     H00581  Alport syndrome [PATH:hsa04510 hsa04512]
     H00597  Snyder-Robinson syndrome [PATH:hsa00270 hsa00330 hsa00410 hsa00480]
     H00617  Desmosterolosis [PATH:hsa00100 hsa01100]
     H00631  Cornelia de Lange syndrome [PATH:hsa04110 hsa04114]
     H00634  Duane-radial ray syndrome
     H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy [PATH:hsa04514]
     H00640  Limb-mammary syndrome
     H00641  ADULT syndrome
     H00665  Mandibuloacral dysplasia
     H00673  Weill-Marchesani syndrome
     H00675  Acrocapitofemoral dysplasia [PATH:hsa04340]
     H00682  Woodhouse-Sakati syndrome
     H00756  Pitt-Hopkins syndrome [PATH:hsa04514]
     H00757  Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia
     H00785  Congenital hypotrichosis with juvenile macular dystrophy [PATH:hsa04514]
     H00907  Kleefstra syndrome [PATH:hsa00310]
     H00908  Mowat-Wilson syndrome
     H00921  Revesz syndrome
     H00936  Goldberg-Shprintzen megacolon syndrome
     H00940  Cohen syndrome
     H00523  Noonan syndrome and related disorders [PATH:hsa04010]
     H01738  Noonan syndrome [PATH:hsa04014 hsa04010]
     H01984  Leopard syndrome [PATH:hsa04010 hsa04014 hsa04722]
     H01745  Cardiofaciocutaneous syndrome [PATH:hsa04010]
     H01747  Costello syndrome [PATH:hsa04014]
     H02190  CBL syndrome [PATH:hsa04012 hsa04144]
     H02191  Noonan-like syndrome with loose anagen hair [PATH:hsa04611]
     H02189  Neurofibromatosis-Noonan syndrome [PATH:hsa04014 hsa04010]
     H01437  Neurofibromatosis type 1 [PATH:hsa04010 hsa04014]
     H01438  Neurofibromatosis type 2 [PATH:hsa04390]
     H02188  Watson syndrome [PATH:hsa04014 hsa04010]
     H01986  Legius syndrome
     H00539  PTEN hamartoma tumor syndrome
     H01222  Cowden syndrome [PATH:hsa04932]
     H00559  von Hippel-Lindau syndrome [PATH:hsa04120 hsa05200 hsa05211]
     H00296  Defects in RecQ helicases [PATH:hsa03440]
     H01346  Bloom syndrome [PATH:hsa03440 hsa03460]
     H01734  Rothmund-Thomson syndrome
     H00403  Disorders of nucleotide excision repair [PATH:hsa03420]
     H01800  Verheij syndrome
     H00529  Cranioectodermal dysplasia
     H00569  Aarskog-Scott syndrome [PATH:hsa04810]
     H00583  Opitz-GBBB syndrome [PATH:hsa04120]
     H00555  Char syndrome
     H00556  CHARGE syndrome
     H00570  Kabuki syndrome [PATH:hsa00310]
     H00573  Townes-Brocks syndrome
     H00611  Popliteal pterygium syndrome (PPS)
     H00619  Kenny-Caffey syndrome
     H00632  Heterotaxy [PATH:hsa04350 hsa04060]
     H00622  Hypoparathyroidism-retardation-dysmorphism syndrome
     H00642  Lacrimo-auriculo-dento-digital syndrome [PATH:hsa04010 hsa04144 hsa04810]
     H00643  Tooth and nail syndrome
     H00709  Birk Barel mental retardation syndrome (BBMRS)
     H00711  Russell-Silver syndrome
     H00713  Beckwith-Wiedemann syndrome [PATH:hsa04110]
     H00718  Sotos syndrome [PATH:hsa00310]
     H01751  Weaver syndrome [PATH:hsa00310]
     H00653  Marfan syndrome
     H00659  Shprintzen-Goldberg syndrome
     H00661  MASS phenotype
     H00685  Bifid nose with or without anorectal and renal anomalies
     H00686  Manitoba oculotrichoanal syndrome
     H00687  Fraser syndrome
     H00727  Athabascan brainstem dysgenesis syndrome
     H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
     H00797  Martsolf syndrome
     H00811  Distal arthrogryposis [PATH:hsa04260 hsa04530]
     H00882  Cocoon syndrome [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04620 hsa04621 hsa04622 hsa04623 hsa04660 hsa04662 hsa04920]
     H00894  FG syndrome [PATH:hsa04010 hsa04510 hsa04530]
     H00859  Guttmacher syndrome
     H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
     H00868  Stapes ankylosis with broad thumb and toes [PATH:hsa04350]
     H00873  Cousin syndrome
     H00886  Donnai-Barrow syndrome [PATH:hsa04340]
     H00889  Lujan-Fryns syndrome [PATH:hsa04919]
     H00935  Cold-induced sweating syndrome [PATH:hsa04060 hsa04630]
     H00900  Geleophysic dysplasia
     H00914  Warsaw breakage syndrome
     H00915  Tuberous sclerosis complex [PATH:hsa04115 hsa04150 hsa04910]
     H00922  Schinzel-Giedion midface retraction syndrome
     H00934  Caudal duplication anomaly [PATH:hsa04310]
     H00926  Growth retardation, developmental delay, coarse facies, and early death
     H00939  Darsun syndrome
     H00943  TARP syndrome
     H00946  Arts syndrome [PATH:hsa00030 hsa00230 hsa01100]
     H00950  Arthrogryposis, renal dysfunction, and cholestasis
     H00965  RAPADILINO syndrome
     H00997  CATSHL syndrome [PATH:hsa04010 hsa04810]
     H00968  Raine syndrome
     H00969  Skeletal defects, genital hypoplasia, and mental retardation
     H00972  Endocrine-cerebro-osteodysplasia syndrome
     H00977  Trichorhinophalangeal syndrome
     H00980  Nevo syndrome [PATH:hsa00310]
     H00986  Multiple pterygium syndrome [PATH:hsa04080]
     H00987  Fetal akinesia deformation sequence
     H00992  Seckel syndrome [PATH:hsa03460 hsa04110 hsa04115]
     H00993  Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
     H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
     H01008  C syndrome
     H02047  Bohring-Opitz syndrome
     H01035  Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
     H01156  STAR syndrome
     H01192  Lysyl hydroxylase 3 deficiency [PATH:hsa00310 hsa00514]
     H01195  VACTERL/VATER association [PATH:hsa00562 hsa04070 hsa04115 hsa04510 hsa04530]
     H01215  Simpson-Golabi-Behmel syndrome
     H01220  Congenital cataracts, facial dysmorphism, and neuropathy
     H01255  Juvenile-onset dystonia [PATH:hsa04145 hsa04510 hsa04520 hsa04530 hsa04670 hsa04810]
     H01265  Hydrolethalus syndrome
     H01271  Hypoparathyroidism with sensorineural deafness and renal dysplasia
     H01281  Lathosterolosis [PATH:hsa00100]
     H01289  Mulibrey nanism [PATH:hsa04120]
     H01292  Nance-Horan syndrome
     H01308  Macrocephaly macrosomia facial dysmorphism syndrome
     H01370  SHORT syndrome [PATH:hsa04151]
     H01385  Rienhoff syndrome [PATH:hsa04010 hsa04068 hsa04110 hsa04350 hsa04390]
     H01403  Coffin-Siris syndrome [PATH:hsa04714]
     H01435  Congenital asplenia [PATH:hsa03010]
     H01764  Polysplenia syndrome
     H01497  Temtamy preaxial brachydactyly syndrome [PATH:hsa00532]
     H01412  Perlman syndrome
     H01413  Adams-Oliver syndrome [PATH:hsa04330 hsa04658]
     H01496  Spondyloocular syndrome [PATH:hsa00532 hsa00534]
     H01568  3C syndrome
     H01569  CHOPS syndrome
     H01573  Zimmermann-Laband syndrome
     H01752  ATR-X syndrome
     H01769  ZTTK syndrome
     H01776  Aicardi syndrome
     H01793  Young-Simpson syndrome
     H01794  Genitopatellar syndrome
     H01795  Blepharophimosis-mental retardation syndrome
     H01788  Klippel-Trenaunay-Weber syndrome
     H01797  Webb-Dattani syndrome
     H01806  Tenorio syndrome
     H01814  Stromme syndrome
     H01816  Frank-ter Haar syndrome
     H01834  Marshall-Smith syndrome
     H01838  Mandibulofacial dysostosis with microcephaly [PATH:hsa03040]
     H01839  Burn-McKeown syndrome [PATH:hsa03040]
     H01840  Moebius syndrome
     H01843  Cerebrocostomandibular syndrome [PATH:hsa03040]
     H01844  Diaphanospondylodysostosis
     H01845  Catel-Manzke syndrome
     H01847  Thrombocytopenia-absent radius syndrome
     H01850  Hartsfield syndrome
     H01857  Filippi syndrome
     H01872  Microcephaly-capillary malformation syndrome
     H01876  Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
     H01878  Al-Raqad syndrome [PATH:hsa03018]
     H01879  Wiedemann-Steiner syndrome [PATH:hsa03022]
     H01880  Autosomal recessive microcephaly and chorioretinopathy
     H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [PATH:hsa04150]
     H01886  Van den Ende-Gupta syndrome
     H01887  3MC syndrome [PATH:hsa04610]
     H01888  Carpenter syndrome
     H01889  Meier-Gorlin syndrome [PATH:hsa04110]
     H01893  Lateral meningocele syndrome [PATH:hsa04330]
     H01904  Microphthalmia with linear skin defects syndrome [PATH:hsa00190]
     H01908  Carey-Fineman-Ziter syndrome
     H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [PATH:hsa04150 hsa04151]
     H01913  Renpenning syndrome [PATH:hsa03040]
     H01914  Christianson syndrome
     H01915  Borjeson-Forssman-Lehmann syndrome
     H01916  Stocco dos Santos X-linked mental retardation syndrome
     H01917  CK syndrome [PATH:hsa00100]
     H01919  Proud syndrome
     H01922  Infantile hypotonia with psychomotor retardation and characteristic facies
     H01923  Microcephaly, short stature, and impaired glucose metabolism
     H01928  Smith-Kingsmore syndrome [PATH:hsa04150]
     H01930  Au-Kline syndrome
     H01931  Lethal-type popliteal pterygium syndrome
     H01932  Ablepharon-macrostomia syndrome
     H01934  Barber-Say syndrome
     H02023  Baraitser-Winter syndrome [PATH:hsa04810]
     H02046  OFC syndrome
     H02067  Boomerang dysplasia [PATH:hsa04010 hsa04510]
     H02072  Stickler syndrome [PATH:hsa04512 hsa04151 hsa04510]
     H02081  Marshall syndrome
     H02082  Floating-Harbor syndrome
     H02095  Perrault syndrome [PATH:hsa00970 hsa00120]
     H02102  Myhre syndrome [PATH:hsa04110 hsa04310 hsa04350]
     H02127  Yunis-Varon syndrome
     H02134  Microphthalmia with limb anomalies
     H02153  Megalencephaly-capillary malformation syndrome [PATH:hsa04150]
     H02169  Hennekam lymphangiectasia-lymphedema syndrome [PATH:hsa04392]
     H02180  McKusick-Kaufman syndrome
     H02195  MEHMO syndrome [PATH:hsa03013]
     H02198  Pancreatic agenesis and congenital heart disease
     H02218  DOORS syndrome
     H02219  DDOD syndrome [PATH:hsa04150 hsa04721]
     H02224  Grange syndrome
     H02226  Cardiospondylocarpofacial syndrome
     H02229  Terminal osseous dysplasia
     H02232  CAGSSS syndrome [PATH:hsa00970]
     H02233  Alazami syndrome
     H02234  Hamamy syndrome
     H02248  MEND syndrome [PATH:hsa00100]
     H02249  Primrose syndrome
     H02253  Beaulieu-Boycott-Innes syndrome [PATH:hsa03013]
     H02254  Craniosynostosis and dental anomalies [PATH:hsa04630 hsa04060]
     H02255  FDLAB syndrome
     H02260  Chondrodysplasia Chassaing-Lacombe type
     H02267  Wilson-Turner syndrome
     H02271  Cerebellofaciodental syndrome
     H02274  Cerebellar atrophy, visual impairment, and psychomotor retardation
     H02280  Complex lethal osteochondrodysplasia
     H02283  IVIC syndrome
     H02294  Tatton-Brown-Rahman syndrome [PATH:hsa00270]
     H02297  CLAPO syndrome [PATH:hsa04150 hsa04151]
     H02298  Macrocephaly, dysmorphic facies, and psychomotor retardation [PATH:hsa04120]
     H02303  Alopecia-mental retardation syndrome
     H02324  Sacral agenesis with vertebral anomalies
     H02325  Schaaf-Yang syndrome
     H02327  KBG syndrome
     H02328  Sifrim-Hitz-Weiss syndrome
     H02334  Pierpont syndrome
     H02337  Skraban-Deardorff syndrome
     H02346  Intellectual developmental disorder with short stature, facial anomalies, and speech defects [PATH:hsa04710]
     H02347  Thauvin-Robinet-Faivre syndrome
     H02363  Ververi-Brady syndrome
     H02364  Heart and brain malformation syndrome
     H02365  Helsmoortel-van der Aa syndrome
     H02368  Developmental delay with short stature, dysmorphic facial features, and sparse hair
     H02369  IMAGE-I syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02370  FILS syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02376  Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
     H02378  Hypotonia, ataxia, and delayed development syndrome
     H02381  Cleft palate, psychomotor retardation, and distinctive facial features [PATH:hsa04714]
     H02382  Bainbridge-Ropers syndrome
     H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
     H02391  Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
     H02394  Cleft palate, cardiac defects, and mental retardation
     H02422  Retinitis pigmentosa with skeletal anomalies
     H02435  Deafness-infertility syndrome
     H02437  Growth retardation, impaired intellectual development, hypotonia, and hepatopathy [PATH:hsa00970]
 
 Other congenital disorders
 
 Other diseases

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Last updated: November 20, 2020

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