{"orpha":209224,"name":"Myotilinopathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Qualitative or quantitative defects of myotilin"],"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-209224/","orphanet_url":"https://www.orpha.net/en/disease/detail/209224","names":{"fr":{"name":"Myotilinopathie","synonyms":["Anomalie qualitative ou quantitative de la myotiline"]},"de":{"name":"Myotilin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de miotilina"},"it":{"name":"Alterazioni qualitative o quantitative di miotilina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van myotiline"},"pt":{"name":"Deficiências qualitativas e quantitativas de miotilina"},"pl":{"name":"Defekty jakościowe lub ilościowe miotylina","synonyms":["Qualitative or quantitative defects of myotilin"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty myotilinu","synonyms":["Qualitative or quantitative defects of myotilin"]},"uk":{"name":"Міотилінопатія","synonyms":["Якісні або кількісні дефекти міотиліну"]},"zh":{"name":"Myotilin相关性肌原纤维肌病","synonyms":["myotilin蛋白定性或定量缺陷"]},"tr":{"name":"Myotilinopati","synonyms":["Miyotilinin kalitatif veya kantitatif defektleri"]}},"xrefs":[{"source":"ICD-11","code":"8C76","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"524213229"},{"source":"MONDO","code":"16201","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]},{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":98911,"name":"Distal myotilinopathy","type":"Disease"},{"orpha":268129,"name":"Spheroid body myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}