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
H02462 Spondyloepiphyseal dysplasia
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 acrofacial 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 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
H02436 Al-Gazali syndrome [PATH:hsa00532 hsa00534]
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