{"orpha":364571,"name":"Dysostosis with limb and face anomalies 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-364571/","orphanet_url":"https://www.orpha.net/en/disease/detail/364571","names":{"fr":{"name":"Dysostose avec anomalies des membres et de la face comme manifestation majeure"},"de":{"name":"Dysostose mit Extremitäten- und Gesichtsanomalien als Hauptmerkmal"},"es":{"name":"Disostosis con anomalías de extremidades y cara como característica principal"},"it":{"name":"Disostosi con anomalie facciali e degli arti come segno cardinale"},"nl":{"name":"Dysostose met ledemaat- en aangezichtsanomalieën als hoofdkenmerk"},"pt":{"name":"Disostose com anomalias nos membros e face como característica principal"},"pl":{"name":"Dyzostoza z wadami kończyn i twarzy jako objawem głównym"},"cs":{"name":"Dysostóza s anomáliemi končetin a obličeje jako hlavním znakem"},"uk":{"name":"Дизостоз з аномаліями кінцівок та обличчя як основна ознака"},"zh":{"name":"以肢体和面部异常异常为主要特征的骨发育不良"},"tr":{"name":"Esas klinik özelliği ekstremite ve yüz anomalisi olan disostoz"}},"xrefs":[{"source":"MONDO","code":"18236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680978","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]}],"children":[{"orpha":364574,"name":"Acrofacial dysostosis","type":"Clinical group"},{"orpha":199332,"name":"Endocrine-cerebro-osteodysplasia syndrome","type":"Malformation syndrome"},{"orpha":2749,"name":"Oromandibular-limb hypogenesis syndrome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}