{"orpha":209199,"name":"Qualitative or quantitative defects of protein SERCA1","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-209199/","orphanet_url":"https://www.orpha.net/en/disease/detail/209199","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la protéine SERCA1"},"de":{"name":"SERCA1-Protein, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la proteína SERCA1"},"it":{"name":"Alterazioni qualitative o quantitative della proteina SERCA1"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van eiwit SERCA1"},"pt":{"name":"Deficiências qualitativas e quantitativas da proteína SERCA1"},"pl":{"name":"Defekty jakościowe lub ilościowe białka SERCA1"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty proteinu SERCA1"},"uk":{"name":"Якісні або кількісні дефекти білка SERCA1"},"zh":{"name":"SERCA1蛋白定性或定量缺陷"},"tr":{"name":"SERCA1 proteininin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016199","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680836","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":53347,"name":"Brody myopathy","type":"Disease"},{"orpha":88635,"name":"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}