{"orpha":207060,"name":"Qualitative or quantitative defects of alpha-sarcoglycan","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-207060/","orphanet_url":"https://www.orpha.net/en/disease/detail/207060","names":{"fr":{"name":"Anomalie qualitative ou quantitative de l'alpha-sarcoglycane"},"de":{"name":"Alpha-Sarkoglycan, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de alfa-sarcoglicano"},"it":{"name":"Alterazioni qualitative o quantitative dell'alfa-sarcoglicano"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van alfa-sarcoglycaan"},"pt":{"name":"Deficiências qualitativas ou quantitativas de alfa-sarcoglicano"},"pl":{"name":"Defekt jakościowy lub ilościowy alfa-sarkoglikanu"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty alfa-sarkoglykanu"},"uk":{"name":"Якісні або кількісні дефекти альфа-саркоглікану"},"zh":{"name":"α-肉聚糖的定性或定量缺陷"},"tr":{"name":"Alfa sarkoglikanın kalitatif veya kantitatif defekt"}},"xrefs":[{"source":"MONDO","code":"0016141","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16141","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680808","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207052,"name":"Qualitative or quantitative defects of sarcoglycan","classifications":[156]}],"children":[{"orpha":62,"name":"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}