{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-364568/","orphanet_url":"https://www.orpha.net/en/disease/detail/364568","names":{"fr":{"name":"Dysostose avec anomalie des membres comme manifestation majeure"},"de":{"name":"Dysostose mit Extremitätenanomalie als Hauptmerkmal"},"es":{"name":"Disostosis con anomalías de las extremidades como característica principal"},"it":{"name":"Disostosi con anomalie degli arti come segno cardinale"},"nl":{"name":"Dysostose met ledemaatanomalie als hoofdkenmerk"},"pt":{"name":"Disostose com anomalia nos membros como característica principal"},"pl":{"name":"Dyzostoza z wadą kończyn jako objawem głównym"},"cs":{"name":"Dysostózy s anomáliemi končetin jako hlavním příznakem"},"uk":{"name":"Дизостоз з аномалією кінцівок як основна ознака"},"zh":{"name":"以肢体异常为主要特征的骨发育不良"},"tr":{"name":"Esas klinik özelliği ekstremite anomalisi olan disostoz"}},"xrefs":[{"source":"MONDO","code":"18235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680979","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93466,"name":"OBSOLETE: Limb-girdle bone anomaly","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364559,"name":"Dysostosis","classifications":[147,199]}],"children":[{"orpha":364198,"name":"Bipartite talus","type":"Morphological anomaly"},{"orpha":488434,"name":"Camptodactyly syndrome, Guadalajara type 3","type":"Malformation syndrome"},{"orpha":1321,"name":"Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome","type":"Malformation syndrome"},{"orpha":1323,"name":"Camptodactyly-joint contractures-facial skeletal defects syndrome","type":"Malformation syndrome"},{"orpha":69028,"name":"Dysostosis with brachydactyly","type":"Category"},{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","type":"Category"},{"orpha":364571,"name":"Dysostosis with limb and face anomalies as a major feature","type":"Category"},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","type":"Category"},{"orpha":3023,"name":"External auditory canal atresia-vertical talus-hypertelorism syndrome","type":"Malformation syndrome"},{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","type":"Malformation syndrome"},{"orpha":228184,"name":"Heart-hand syndrome","type":"Category"},{"orpha":157808,"name":"Isolated pseudoarthrosis of the limbs","type":"Morphological anomaly"},{"orpha":294949,"name":"Non-syndromic joint formation defects","type":"Category"},{"orpha":93457,"name":"Non-syndromic limb reduction defect","type":"Category"},{"orpha":93458,"name":"Non-syndromic polydactyly, syndactyly and/or hyperphalangy","type":"Category"},{"orpha":2793,"name":"Otoonychoperoneal syndrome","type":"Malformation syndrome"},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","type":"Category"},{"orpha":294955,"name":"Syndrome with limb reduction defects","type":"Category"},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","type":"Category"},{"orpha":3292,"name":"Tel Hashomer camptodactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}