{"orpha":207085,"name":"Qualitative or quantitative defects of dystrophin","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Dystrophinopathy"],"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-207085/","orphanet_url":"https://www.orpha.net/en/disease/detail/207085","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la dystrophine","synonyms":["Dystrophinopathie"]},"de":{"name":"Dystrophin, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la distrofina","synonyms":["Defectos cuantitativos o cualitativos de la distrofina"]},"it":{"name":"Deficit qualitativi o quantitativi di distrofina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van dystrofine","synonyms":["Dystrofinopathie"]},"pt":{"name":"Deficiências qualitativas ou quantitativas da distrofina"},"pl":{"name":"Defekty jakościowe lub ilościowe dystrofiny","synonyms":["Dystrofinopatia"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty dystrofinu","synonyms":["Dystrofinopatie"]},"uk":{"name":"Якісні або кількісні дефекти дистрофіну","synonyms":["Дистрофінопатія"]},"zh":{"name":"肌营养不良蛋白的定性或定量缺陷","synonyms":["肌营养不良蛋白病"]},"tr":{"name":"Distrofinin kalitatif veya kantitatif defekti","synonyms":["Distrofinopati"]}},"xrefs":[{"source":"MONDO","code":"0016147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679787","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2031","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":206606,"name":"OBSOLETE: Other muscle weakness and/or chronic muscle pain","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":98895,"name":"Becker muscular dystrophy","type":"Disease"},{"orpha":98896,"name":"Duchenne muscular dystrophy","type":"Disease"},{"orpha":154,"name":"Familial isolated dilated cardiomyopathy","type":"Disease"},{"orpha":206599,"name":"Isolated asymptomatic elevation of creatine phosphokinase","type":"Biological anomaly"},{"orpha":206546,"name":"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}