{"orpha":404584,"name":"Rare genetic bone development disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare genetic skeletal development disorder"],"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-404584/","orphanet_url":"https://www.orpha.net/en/disease/detail/404584","names":{"fr":{"name":"Anomalie rare du développement osseux d'origine génétique","synonyms":["Anomalie rare du développement squelettique d'origine génétique"]},"de":{"name":"Seltene genetisch bedingte Störung der Knochenentwicklung","synonyms":["Seltene genetisch bedingte Störung der Skelettentwicklung"]},"es":{"name":"Trastorno raro genético del desarrollo óseo","synonyms":["Trastorno raro genético del desarrollo esquelético"]},"it":{"name":"Disturbo genetico raro dello sviluppo osseo","synonyms":["Disturbo genetico raro dello sviluppo scheletrico"]},"nl":{"name":"Zeldzame genetische botontwikkelingsstoornis","synonyms":["Zeldzame genetische skeletale ontwikkelingsstoornis"]},"pt":{"name":"Doença genética rara do desenvolvimento ósseo"},"pl":{"name":"Rzadkie genetyczne zaburzenia rozwoju kości","synonyms":["Rzadkie genetyczne zaburzenia rozwoju szkieletu"]},"cs":{"name":"Vzácné genetické poruchy kostního vývoje","synonyms":["Vzácné genetické poruchy kosterního vývoje"]},"uk":{"name":"Рідкісне генетично обумовлене порушення розвитку кісток","synonyms":["Рідкісне генетичне порушення розвитку скелета"]},"zh":{"name":"罕见遗传性骨发育障碍","synonyms":["罕见的遗传性骨骼发育障碍"]},"tr":{"name":"Nadir genetik kemik gelişimi bozukluğu","synonyms":["Nadir genetik iskelet gelişim bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"18457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680015","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]}],"children":[{"orpha":404568,"name":"Dysostosis of genetic origin","type":"Category"},{"orpha":364526,"name":"Primary bone dysplasia","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}