Human Diseases

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 Cancers
 
 Immune system diseases
 
 Nervous system diseases
 
 Cardiovascular diseases
 
 Respiratory diseases
 
 Endocrine and metabolic diseases
 
 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
     H00207  Rhizomelic chondrodysplasia punctata [PATH:hsa00564 hsa00565 hsa04146]
     H00434  Camurati-Engelmann disease [PATH:hsa04350]
     H00436  Osteopetrosis [PATH:hsa04380 hsa05323]
     H00444  Osteopathia striata with cranial sclerosis
     H00445  Osteoarthritis with mild chondrodysplasia
     H00447  HEM skeletal dysplasia
     H00450  Worth type autosomal dominant osteosclerosis [PATH:hsa04310]
     H00452  Buschke-Ollendorff syndrome
     H00456  Fronto-otopalatodigital syndromes
     H00459  Synpolydactyly
     H00461  Ischiocoxopodopatellar syndrome
     H00462  Stuve-Wiedemann syndrome
     H00466  Grebe dysplasia [PATH:hsa04350]
     H00467  Fibular hypoplasia and complex brachydactyly [PATH:hsa04350]
     H00468  Acromesomelic dysplasia, Demirhan type [PATH:hsa04350]
     H00470  Acromesomelic dysplasia, Maroteaux type
     H00471  Split-hand/foot malformation
     H00474  Schneckenbecken dysplasia
     H00475  Enlarged parietal foramina/cranium bifidum
     H00476  Multiple epiphyseal dysplasia
     H00477  Pseudoachondroplasia
     H00479  Metaphyseal dysplasias
     H00482  Brachydactyly [PATH:hsa04340 hsa04350]
     H00483  Angel shaped phalangoepiphyseal dysplasia [PATH:hsa04350]
     H00484  Multiple synostosis syndrome [PATH:hsa04350 hsa04010 hsa04810]
     H00486  Sclerosteosis [PATH:hsa04310]
     H00491  Craniometaphyseal dysplasia
     H00494  Desbuquois syndrome [PATH:hsa00230 hsa00240 hsa00532 hsa00534]
     H00495  Eiken dysplasia
     H00499  Spondylocarpotarsal synostosis syndrome
     H00493  Heparan sulfate proteoglycan gene defects
     H00501  Fibrous dysplasia, polyostotic
     H00503  Ellis-van Creveld syndrome [PATH:hsa04340]
     H00505  FGFR3-related short limb skeletal dysplasia [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
     H01749  Achondroplasia
     H01750  Thanatophoric dysplasia
     H00506  Osteogenesis imperfecta
     H00508  Blomstrand syndrome
     H00511  Short rib-polydactyly syndrome
     H00514  Bruck syndrome
     H00515  Atelosteogenesis type II
     H00517  Spondylocostal dysostosis [PATH:hsa04330]
     H00521  Cleidocranial dysplasia
     H00522  Brachyolmia
     H00528  Frontonasal dysplasia
     H02210  Acromelic frontonasal dysostosis
     H02211  Acrodysostosis [PATH:hsa04928 hsa04024]
     H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662]
     H00572  ESCO2-related disorders
     H00580  Schimke immunoosseous dysplasia
     H00629  Acheiropodia
     H00636  Tetra-amelia [PATH:hsa04310]
     H00637  Ulnar-mammary syndrome
     H00660  Congenital contractural arachnodactyly
     H00751  Asphyxiating thoracic dystrophy [PATH:hsa04145 hsa04962]
     H00758  Progressive pseudorheumatoid dysplasia
     H00778  Tarsal-carpal coalition syndrome [PATH:hsa04350]
     H00846  Fuhrmann syndrome
     H00847  Al-Awadi/Raas-Rothschild syndrome
     H00850  Frontorhiny
     H00851  Proximal symphalangism
     H00852  Klippel-Feil syndrome [PATH:hsa04350]
     H00853  Cenani-Lenz syndactyly syndrome
     H00855  Triphalangeal thumb-polysyndactyly syndrome [PATH:hsa04340]
     H01226  Polysyndactyly [PATH:hsa04340]
     H02332  Preaxial polydactyly [PATH:hsa04340]
     H02333  Laurin-Sandrow syndrome
     H00863  Spondylo-megaepiphyseal-metaphyseal dysplasia
     H00865  Lethal congenital contractural syndrome
     H00870  Brachydactyly-syndactyly syndrome
     H00903  Congenital clubfoot
     H00929  Congenital vertical talus
     H00979  Caudal regression syndrome and Sirenomelia [PATH:hsa04310]
     H01018  Metachondromatosis [PATH:hsa04630 hsa04650 hsa04670 hsa04722 hsa04920]
     H01030  Congenital arthrogryposis with anterior horn cell disease
     H01095  Syndactyly [PATH:hsa04540]
     H01105  Cranio-lenticulo-sutural dysplasia [PATH:hsa04141]
     H01194  X-linked chondrodysplasia punctata [PATH:hsa00100]
     H01207  Trigonocephaly [PATH:hsa04010 hsa04520 hsa04810]
     H01241  Congenital diaphragmatic hernia
     H01246  Isolated congenital nail clubbing
     H01376  Acrofacial dysostosis [PATH:hsa00240 hsa03040]
     H01392  Arthrogryposis, mental retardation, and seizures
     H01393  Van Maldergem syndrome
     H01402  Nicolaides-Baraitser syndrome
     H01571  Singleton-Merten syndrome
     H01572  Cole-Carpenter syndrome [PATH:hsa04141]
     H01575  Roifman syndrome
     H01817  Beukes hip dysplasia
     H01824  CODAS syndrome
     H02343  EVEN-plus syndrome
     H02185  Spondylometaphyseal dysplasia
     H01821  Spondylometaphyseal dysplasia with cone-rod dystrophy [PATH:hsa00440 hsa00564]
     H01825  Spondylometaphyseal dysplasia, Sedaghatian type
     H01830  Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
     H00519  Spondyloepiphyseal dysplasia congenita
     H00760  Spondyloepiphyseal dysplasia tarda
     H00762  Spondyloepiphyseal dysplasia with congenital joint dislocations [PATH:hsa00532]
     H00765  Spondyloepiphyseal dysplasia, Kimberley type
     H02186  Spondyloepiphyseal dysplasia, Maroteaux type
     H02187  Spondyloepimetaphyseal dysplasia
     H00761  SEMD, Pakistani type [PATH:hsa00230 hsa00450 hsa00920 hsa01100]
     H00767  SEMD, Matrilin type
     H00777  SEMD, short limb-hand type
     H01494  SEMD with joint laxity type [PATH:hsa00532 hsa00534]
     H01828  Opsismodysplasia
     H01832  Lenz-Majewski syndrome [PATH:hsa00564]
     H01851  Congenital scoliosis associated with rib anomalies
     H01852  Postaxial polydactyly
     H01854  Metacarpal 4-5 fusion
     H01884  Auriculocondylar syndrome
     H02048  Larsen syndrome [PATH:hsa04510]
     H02063  Diastrophic dysplasia
     H02064  Atelosteogenesis type I and III [PATH:hsa04010 hsa04510]
     H00678  Achondrogenesis type IA
     H02065  Achondrogenesis type IB
     H02066  Achondrogenesis type II [PATH:hsa04151 hsa04510 hsa04512]
     H02068  Hypochondroplasia [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
     H02069  SADDAN [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
     H02070  Kniest dysplasia [PATH:hsa04151 hsa04510 hsa04512]
     H02071  Czech dysplasia [PATH:hsa04151 hsa04510 hsa04512]
     H00520  Type II collagenopathies [PATH:hsa04151 hsa04510 hsa04512]
     H02079  Oto-spondylo-megaepiphyseal dysplasia
     H02080  Fibrochondrogenesis
     H02154  Omodysplasia
     H02155  Dyssegmental dysplasia
     H02157  Short-rib thoracic dysplasia
     H02158  Weyers acrodental dysostosis [PATH:hsa04340]
     H02161  Greig cephalopolysyndactyly syndrome [PATH:hsa04340]
     H02183  Parastremmatic dwarfism
     H02184  Metatropic dysplasia
     H02223  Osteocraniostenosis
     H02227  Frontometaphyseal dysplasia [PATH:hsa04010]
     H02228  Acromicric dysplasia
     H02299  Neurogenic arthrogryposis multiplex congenita
     H02300  Steel syndrome
     H02306  Chondrodysplasia with joint dislocations, GPAPP type [PATH:hsa00562 hsa00920 hsa04070]
     H02349  Odontochondrodysplasia
     H02415  Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
   Congenital malformations of skin
   Other congenital malformations
 
 Other congenital disorders
 
 Other diseases

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Last updated: August 5, 2020

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