{"orpha":207063,"name":"Qualitative or quantitative defects of beta-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-207063/","orphanet_url":"https://www.orpha.net/en/disease/detail/207063","names":{"fr":{"name":"Anomalie qualitative ou quantitative du bêta-sarcoglycane"},"de":{"name":"Beta-Sarkoglycan, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de beta-sarcoglicano"},"it":{"name":"Deficit qualitativi o quantitativi di beta-sarcoglicano"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van bèta-sarcoglycaan"},"pt":{"name":"Deficiências qualitativas ou quantitativas do beta-sarcoglicano"},"pl":{"name":"Defekt jakościowy lub ilościowy beta-sarkoglikanu"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty beta-sarkoglykanu"},"uk":{"name":"Якісні або кількісні дефекти бета-саркоглікану"},"zh":{"name":"β-肉聚糖的定性或定量缺陷"},"tr":{"name":"Beta sarkoglikanın kalitatif veya kantitatif defekt"}},"xrefs":[{"source":"MONDO","code":"0016142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680809","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":119,"name":"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}