{"orpha":139012,"name":"Rare bone development disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare 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-139012/","orphanet_url":"https://www.orpha.net/en/disease/detail/139012","names":{"fr":{"name":"Anomalie rare du développement osseux","synonyms":["Anomalie rare du développement squelettique"]},"de":{"name":"Seltene Entwicklungsstörung des Knochen","synonyms":["Seltene Entwicklungsstörung des Skeletts"]},"es":{"name":"Trastorno raro del desarrollo óseo","synonyms":["Trastorno raro del desarrollo esquelético"]},"it":{"name":"Difetto raro dello sviluppo osseo","synonyms":["Difetto raro dello sviluppo scheletrico"]},"nl":{"name":"Zeldzame botontwikkelingsstoornis","synonyms":["Zeldzame skeletale ontwikkelingsstoornis"]},"pt":{"name":"Síndrome dismórfico com envolvimento ósseo"},"pl":{"name":"Zespół malformacyjny dotyczący kości","synonyms":["Rare skeletal development disorder"]},"cs":{"name":"Vzácné poruchy kostního vývoje","synonyms":["Vzácné poruchy skeletálního vývoje"]},"uk":{"name":"Рідкісне порушення розвитку кісток","synonyms":["Рідкісне порушення розвитку скелета"]},"zh":{"name":"罕见骨发育障碍","synonyms":["罕见骨骼发育障碍"]},"tr":{"name":"Nadir kemik gelişim bozukluğu","synonyms":["Nadir iskelet gelişim bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"15328","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679598","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19901","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":139015,"name":"OBSOLETE: Chondrodysplastic malformation syndrome","status":"inactive"},{"type":"Referred to","orpha":139018,"name":"OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93890,"name":"Rare developmental defect during embryogenesis","classifications":[147]}],"children":[{"orpha":364559,"name":"Dysostosis","type":"Category"},{"orpha":364526,"name":"Primary bone dysplasia","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}