{"orpha":207104,"name":"Qualitative or quantitative defects of calpain","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-207104/","orphanet_url":"https://www.orpha.net/en/disease/detail/207104","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la calpaïne"},"de":{"name":"Calpaïn, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la calpaína"},"it":{"name":"Deficit qualitativi o quantitativi di calpaina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van calpaïne"},"pt":{"name":"Deficiências qualitativas ou quantitativas de calpaïn"},"pl":{"name":"Defekty jakościowe lub ilościowe kalpainy"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty kalpainu"},"uk":{"name":"Якісні або кількісні дефекти кальпаїну"},"zh":{"name":"钙蛋白酶的定性或定量缺陷"},"tr":{"name":"Kalpainin kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"16152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680830","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":565909,"name":"Calpain-3-related limb-girdle muscular dystrophy D4","type":"Disease"},{"orpha":267,"name":"Calpain-3-related limb-girdle muscular dystrophy R1","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}