{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","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-294957/","orphanet_url":"https://www.orpha.net/en/disease/detail/294957","names":{"fr":{"name":"Dysostose avec anomalies réductionnelles combinées des membres supérieurs et inférieurs"},"de":{"name":"Dysostose mit kombinierten Reduktionsdefekten der oberen und unteren Extremitäten"},"es":{"name":"Disostosis con defectos por reducción combinada de extremidades superiores e inferiores"},"it":{"name":"Disostosi con difetti di riduzione combinata degli arti superiori e inferiori"},"nl":{"name":"Dysostose met gecombineerde reductiedefecten van bovenste en onderste ledematen"},"pt":{"name":"Defeitos de redução combinada dos membros superiores e inferiores"},"pl":{"name":"Złożone wady skrócenia kończyn górnych i dolnych"},"cs":{"name":"Dysostóza s kombinovanými redukčními defekty horních a dolních končetin"},"uk":{"name":"Дизостоз з комбінованими редукційними дефектами верхніх і нижніх кінцівок"},"zh":{"name":"骨质疏松症伴上下肢联合缺损"},"tr":{"name":"Üst ve alt ekstremitelerde kombine redüksiyon defektleri ile seyreden disostoz"}},"xrefs":[{"source":"ICD-11","code":"LD26.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1211657447"},{"source":"MONDO","code":"17433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681000","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]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[{"orpha":2019,"name":"Femur-fibula-ulna complex","type":"Malformation syndrome"},{"orpha":1118,"name":"Fibular aplasia-ectrodactyly syndrome","type":"Malformation syndrome"},{"orpha":1986,"name":"Gollop-Wolfgang complex","type":"Malformation syndrome"},{"orpha":1121,"name":"Radial deficiency-tibial hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":3329,"name":"Tibial aplasia-ectrodactyly syndrome","type":"Malformation syndrome"},{"orpha":1122,"name":"Ulnar hypoplasia-split foot syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}