{"orpha":207070,"name":"Qualitative or quantitative defects of delta-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-207070/","orphanet_url":"https://www.orpha.net/en/disease/detail/207070","names":{"fr":{"name":"Anomalie qualitative ou quantitative du delta-sarcoglycane"},"de":{"name":"Delta-Sarkoglykan, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de delta-sarcoglicano"},"it":{"name":"Deficit qualitativi o quantitativi di delta-sarcoglicano"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van delta-sarcoglycaan"},"pt":{"name":"Deficiências qualitativas ou quantitativas do delta-sarcoglicano"},"pl":{"name":"Defekt jakościowy lub ilościowy delta-sarkoglikanu"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty delta-sarkoglykanu"},"uk":{"name":"Якісні або кількісні дефекти дельта-саркоглікану"},"zh":{"name":"δ-肉聚糖的定性或定量缺陷"},"tr":{"name":"Delta-sarkoglikanın kalitatif veya kantitatif defekt"}},"xrefs":[{"source":"MONDO","code":"0016144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680806","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":219,"name":"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}