{"orpha":156731,"name":"Dyssegmental dysplasia, Rolland-Desbuquois type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-156731/","orphanet_url":"https://www.orpha.net/en/disease/detail/156731","names":{"fr":{"name":"Dysplasie dyssegmentaire type Rolland-Desbuquois"},"de":{"name":"Dysplasie, dyssegmentale, Typ Rolland-Desbuquois"},"es":{"name":"Displasia disegmentaria tipo Rolland-Desbuquois"},"it":{"name":"Displasia dissegmentaria, tipo Rolland-Desbuquois"},"nl":{"name":"Dyssegmentale dysplasie, Rolland-Desbuquois-type"},"pt":{"name":"Displasia dissegmentar, tipo Rolland-Desbuquois"},"pl":{"name":"Dysplazja, typ Rollanda i Desbuquois"},"cs":{"name":"Dyssegmentální dysplázie, Rollandův-Desbuquoisův typ","synonyms":["Dyssegmentální dysplázie, Rolland-Desbuquoisův typ"]},"uk":{"name":"Диссегментарна дисплазія, тип Роллана-Дебукуа"},"zh":{"name":"罗兰-德布奎斯型节段性发育不良"},"tr":{"name":"Dissegmental displazi, Rolland-Desbuquois tipi"}},"xrefs":[{"source":"OMIM","code":"224400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1291444727"},{"source":"MONDO","code":"0009139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537999","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432209","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1804,"name":"Dyssegmental dysplasia-glaucoma syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"38424183[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38424183[PMID]_ORPHANET"}],"phenotypes":null}