{"orpha":93421,"name":"Type 2 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-93421/","orphanet_url":"https://www.orpha.net/en/disease/detail/93421","names":{"fr":{"name":"Maladie osseuse liée au collagène 2"},"de":{"name":"Kollagen Typ 2-assoziierte Knochenkrankheit"},"es":{"name":"Trastorno óseo asociado al colágeno tipo 2"},"it":{"name":"Difetto osseo legato al collagene, tipo 2"},"nl":{"name":"Type 2 collageengerelateerde botaandoening"},"pt":{"name":"Doença óssea colagénio tipo 2-relacionada"},"pl":{"name":"Anomalia kolagenu typu 2"},"cs":{"name":"Onemocnění kostí asociovaná s defektem kolagenu 2"},"uk":{"name":"Колагенові розлади кісток, повязані з колагеном 2 типу"},"zh":{"name":"胶原蛋白相关骨病2型"},"tr":{"name":"Tip 2 kollajen-ilişkili kemik bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0022800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681603","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":93296,"name":"Achondrogenesis type 2","type":"Clinical subtype"},{"orpha":1427,"name":"Autosomal recessive otospondylomegaepiphyseal dysplasia","type":"Disease"},{"orpha":86820,"name":"Familial avascular necrosis of femoral head","type":"Disease"},{"orpha":93297,"name":"Hypochondrogenesis","type":"Clinical subtype"},{"orpha":485,"name":"Kniest dysplasia","type":"Disease"},{"orpha":2380,"name":"Legg-Calvé-Perthes disease","type":"Disease"},{"orpha":93279,"name":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis","type":"Disease"},{"orpha":85166,"name":"Platyspondylic dysplasia, Torrance type","type":"Malformation syndrome"},{"orpha":93346,"name":"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","type":"Disease"},{"orpha":94068,"name":"Spondyloepiphyseal dysplasia congenita","type":"Disease"},{"orpha":137678,"name":"Spondyloepiphyseal dysplasia with metatarsal shortening","type":"Disease"},{"orpha":459051,"name":"Spondyloepiphyseal dysplasia, Stanescu type","type":"Disease"},{"orpha":93315,"name":"Spondylometaphyseal dysplasia, 'corner fracture' type","type":"Disease"},{"orpha":93316,"name":"Spondylometaphyseal dysplasia, Schmidt type","type":"Disease"},{"orpha":1856,"name":"Spondyloperipheral dysplasia-short ulna syndrome","type":"Disease"},{"orpha":90653,"name":"Stickler syndrome type 1","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}