{"orpha":364820,"name":"TRPV4-related bone disorder","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-364820/","orphanet_url":"https://www.orpha.net/en/disease/detail/364820","names":{"fr":{"name":"Maladie osseuse liée à TRPV4"},"de":{"name":"TRPV4-assoziierte Knochenstörung"},"es":{"name":"Trastorno óseo asociado a TRPV4"},"it":{"name":"Distrubo osseo correlato a TRPV4"},"nl":{"name":"TRPV4-gerelateerde botaandoening"},"pt":{"name":"Doença óssea TRPV4-relacionada"},"pl":{"name":"Choroba kości związana z TRPV4"},"cs":{"name":"TRPV4-vázané nemoci kostí"},"uk":{"name":"Захворювання кісток, повязані з TRPV4"},"zh":{"name":"TRPV4基因相关骨病"},"tr":{"name":"TRPV4-ilişkili kemik bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0018240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364803,"name":"Rare bone disease related to a common gene or pathway defect","classifications":[156]}],"children":[{"orpha":93304,"name":"Autosomal dominant brachyolmia","type":"Malformation syndrome"},{"orpha":85169,"name":"Familial digital arthropathy-brachydactyly","type":"Malformation syndrome"},{"orpha":2635,"name":"Metatropic dysplasia","type":"Disease"},{"orpha":263482,"name":"Spondyloepimetaphyseal dysplasia, Maroteaux type","type":"Disease"},{"orpha":93314,"name":"Spondylometaphyseal dysplasia, Kozlowski type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}