{"orpha":93425,"name":"Filamin-related bone disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Bone filaminopathy"],"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-93425/","orphanet_url":"https://www.orpha.net/en/disease/detail/93425","names":{"fr":{"name":"Maladie osseuse liée à la filamine","synonyms":["Filaminopathie osseuse"]},"de":{"name":"Filamin-abhängige Knochenkrankheit","synonyms":["Knochen-Filaminopathie"]},"es":{"name":"Trastorno óseo asociado a la filamina","synonyms":["Filaminopatía del hueso"]},"it":{"name":"Difetto osseo legato alla filamina","synonyms":["Filaminopatia scheletrica"]},"nl":{"name":"Filaminegerelateerde botaandoening","synonyms":["Botfilaminopathie"]},"pt":{"name":"Doença óssea filamina-relacionada"},"pl":{"name":"Filaminopatia kości","synonyms":["Bone filaminopathy"]},"cs":{"name":"Onemocnění kostí asociovaná s defektem filaminu","synonyms":["Kostní filaminopatie"]},"uk":{"name":"Розлад кісток, повязаний з філаміном","synonyms":["Кісткова філамінопатія"]},"zh":{"name":"细丝蛋白相关骨病","synonyms":["骨纤维病"]},"tr":{"name":"Filamin-ilişkili kemik bozukluğu","synonyms":["Kemik filaminopatisi"]}},"xrefs":[{"source":"MONDO","code":"0019690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680280","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":1190,"name":"Atelosteogenesis type I","type":"Malformation syndrome"},{"orpha":56305,"name":"Atelosteogenesis type III","type":"Malformation syndrome"},{"orpha":1263,"name":"Boomerang dysplasia","type":"Disease"},{"orpha":503,"name":"Larsen syndrome","type":"Malformation syndrome"},{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","type":"Clinical group"},{"orpha":3275,"name":"Spondylocarpotarsal synostosis","type":"Malformation syndrome"},{"orpha":88630,"name":"Terminal osseous dysplasia-pigmentary defects syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}