{"orpha":209047,"name":"Qualitative or quantitative defects of filamin C","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-209047/","orphanet_url":"https://www.orpha.net/en/disease/detail/209047","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la filamine C"},"de":{"name":"Filamin C, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de filamina C"},"it":{"name":"Alterazioni qualitative o quantitative di filamina C"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van filamine C"},"pt":{"name":"Deficiências qualitativas e quantitativas de filamina C"},"pl":{"name":"Defekty jakościowe lub ilościowe filaminy C"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty filaminu C"},"uk":{"name":"Якісні або кількісні дефекти філаміну С"},"zh":{"name":"细丝蛋白C定性或定量缺陷"},"tr":{"name":"C filamininin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016189","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209038,"name":"Qualitative or quantitative defects of myofibrillar proteins","classifications":[156]}],"children":[{"orpha":171445,"name":"Muscle filaminopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}