{"orpha":93439,"name":"Campomelic dysplasia and related disorders","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Bent bone dysplasia"],"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-93439/","orphanet_url":"https://www.orpha.net/en/disease/detail/93439","names":{"fr":{"name":"Dysplasie campomélique et maladies associées","synonyms":["Dysplasie osseuse avec incurvation des membres"]},"de":{"name":"Kampomele Dysplasie und verwandte Krankheiten","synonyms":["Dysplasie mit gekrümmten Knochen"]},"es":{"name":"Displasia campomélica y trastornos relacionados","synonyms":["Displasia de huesos curvados"]},"it":{"name":"Displasia con ossa incurvate"},"nl":{"name":"Campomele dysplasie en gerelateerde stoornissen","synonyms":["Gebogen bot-dysplasie"]},"pt":{"name":"Displasia de ossos arqueados"},"pl":{"name":"Dysplazja wygiętych kości","synonyms":["Bent bone dysplasia"]},"cs":{"name":"Dysplázie ohnutých kostí","synonyms":["Bent bone dysplasia"]},"uk":{"name":"Кампомелічна дисплазія та повязані з нею розлади","synonyms":["Дисплазія зігнутих кісток"]},"zh":{"name":"躯干发育异常及相关疾病","synonyms":["弯骨发育不良"]},"tr":{"name":"Kampomelik displazi ve ilgili bozukluklar","synonyms":["Bükülmüş kemik displazisi"]}},"xrefs":[{"source":"OMIM","code":"614592","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620076","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0019698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432238","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2292,"name":"OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":656283,"name":"Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency","type":"Disease"},{"orpha":2768,"name":"Blount disease","type":"Malformation syndrome"},{"orpha":1318,"name":"Campomelia, Cumming type","type":"Malformation syndrome"},{"orpha":140,"name":"Campomelic dysplasia","type":"Malformation syndrome"},{"orpha":313855,"name":"FGFR2-related bent bone dysplasia","type":"Disease"},{"orpha":1801,"name":"Kyphomelic dysplasia","type":"Malformation syndrome"},{"orpha":324307,"name":"Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":3206,"name":"Stüve-Wiedemann syndrome","type":"Malformation syndrome"},{"orpha":3344,"name":"Weismann-Netter syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}