{"orpha":93422,"name":"Type 11 collagen-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-93422/","orphanet_url":"https://www.orpha.net/en/disease/detail/93422","names":{"fr":{"name":"Maladie osseuse liée au collagène 11"},"de":{"name":"Kollagen Typ 11-assoziierte Knochenkrankheit"},"es":{"name":"Trastorno óseo asociado al colágeno tipo 11"},"it":{"name":"Difetto osseo legato al collagene, tipo 11"},"nl":{"name":"Type 11 collageengerelateerde botaandoening"},"pt":{"name":"Doença óssea colagénio tipo 11-relacionada"},"pl":{"name":"Anomalia kolagenu typu 11"},"cs":{"name":"Onemocnění kostí asociovaná s defektem kolagenu 11"},"uk":{"name":"Колагенові розлади кісток, повязані з колагеном 11 типу"},"zh":{"name":"胶原蛋白相关骨病11型"},"tr":{"name":"Tip 11 kollajen-ilişkili kemik bozukluğu"}},"xrefs":[{"source":"UMLS","code":"C5681606","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":440354,"name":"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","type":"Malformation syndrome"},{"orpha":166100,"name":"Autosomal dominant otospondylomegaepiphyseal dysplasia","type":"Malformation syndrome"},{"orpha":1427,"name":"Autosomal recessive otospondylomegaepiphyseal dysplasia","type":"Disease"},{"orpha":2021,"name":"Fibrochondrogenesis","type":"Disease"},{"orpha":560,"name":"Marshall syndrome","type":"Malformation syndrome"},{"orpha":90654,"name":"Stickler syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}