{"orpha":209038,"name":"Qualitative or quantitative defects of myofibrillar proteins","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-209038/","orphanet_url":"https://www.orpha.net/en/disease/detail/209038","names":{"fr":{"name":"Anomalie qualitative ou quantitative des protéines myofibrillaires"},"de":{"name":"Myofibrilläres Protein, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de proteínas miofibrilares"},"it":{"name":"Alterazioni qualitative o quantitative delle proteine miofibrillari"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van myofibrillaire eiwitten"},"pt":{"name":"Deficiências qualitativas e quantitativas de proteína miofibrilares"},"pl":{"name":"Defekty jakościowe lub ilościowe białek miofibrylarnych"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty myofibrilárních proteinů"},"uk":{"name":"Якісні або кількісні дефекти міофібрилярних білків"},"zh":{"name":"肌原纤维蛋白定性或定量缺陷"},"tr":{"name":"Miyofibriler proteinlerin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016186","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680851","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":209044,"name":"Qualitative or quantitative defects of alphaB-cristallin","type":"Category"},{"orpha":209041,"name":"Qualitative or quantitative defects of desmin","type":"Category"},{"orpha":209047,"name":"Qualitative or quantitative defects of filamin C","type":"Category"},{"orpha":209050,"name":"Qualitative or quantitative defects of protein ZASP","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}