{"orpha":207078,"name":"Qualitative or quantitative defects of caveolin-3","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Caveolinopathy"],"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-207078/","orphanet_url":"https://www.orpha.net/en/disease/detail/207078","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la cavéoline-3","synonyms":["Cavéolinopathie"]},"de":{"name":"Caveolin-3, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la caveolina-3","synonyms":["Caveolinopatía"]},"it":{"name":"Deficit qualitativi o quantitativi di caveolina 3"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van caveoline-3","synonyms":["Caveolinopathie"]},"pt":{"name":"Deficiências qualitativas ou quantitativas da caveolina-3"},"pl":{"name":"Defekty jakościowe lub ilościowe kaweoliny-3","synonyms":["Kaweolinopatia"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty kaveolinu-3","synonyms":["Kavelinopatie"]},"uk":{"name":"Якісні або кількісні дефекти кавеоліну-3","synonyms":["Кавеолінопатія"]},"zh":{"name":"窖蛋白3的定性或定量缺陷","synonyms":["窖蛋白病"]},"tr":{"name":"Kaveolin-3'ün kalitatif veya kantitatif defekt","synonyms":["Kaveolinopati"]}},"xrefs":[{"source":"MONDO","code":"16146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679790","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":488650,"name":"Distal myopathy, Tateyama type","type":"Disease"},{"orpha":206599,"name":"Isolated asymptomatic elevation of creatine phosphokinase","type":"Biological anomaly"},{"orpha":97238,"name":"Rippling muscle disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}