{"orpha":364803,"name":"Rare bone disease related to a common gene or pathway defect","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-364803/","orphanet_url":"https://www.orpha.net/en/disease/detail/364803","names":{"fr":{"name":"Maladie osseuse rare liée à un même gène ou une même voie"},"de":{"name":"Seltene Knochenkrankheit bei häufigem Gen- oder Stoffwechseldefekt"},"es":{"name":"Enfermedad ósea rara ligada a un defecto en mismo gen o en una misma vía"},"it":{"name":"Malattia ossea rara associata a difetto nello stesso gene o pathway"},"nl":{"name":"Zeldzame botziekte gerelateerd aan een algemeen gen- of pathwaydefect"},"pt":{"name":"Doença óssea rara relacionada a um gene comum ou defeito da via"},"pl":{"name":"Rzadka choroba kości związana z defektem znanego genu lub szlaku"},"cs":{"name":"Vzácné kostní nemoci související s poruchami známých genů nebo signálních drah"},"uk":{"name":"Рідкісне захворювання кісток, повязане із поширеним дефектом генів або шляхів"},"zh":{"name":"常见基因或通路缺陷相关罕见骨病"},"tr":{"name":"Yaygın bir gen veya yolak defekti -ilişkili nadir kemik hastalığı"}},"xrefs":[{"source":"UMLS","code":"C5680975","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183524,"name":"Rare genetic bone disease","classifications":[156]}],"children":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","type":"Category"},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","type":"Category"},{"orpha":93420,"name":"FGFR3-related chondrodysplasia","type":"Category"},{"orpha":93425,"name":"Filamin-related bone disorder","type":"Category"},{"orpha":674499,"name":"Proteoglycan-related bone disorder","type":"Category"},{"orpha":93423,"name":"Sulfation-related bone disorder","type":"Category"},{"orpha":364820,"name":"TRPV4-related bone disorder","type":"Category"},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","type":"Category"},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}