{"orpha":98910,"name":"Alpha-crystallinopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CRYAB-related myofobrillar myopathy"],"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-98910/","orphanet_url":"https://www.orpha.net/en/disease/detail/98910","names":{"fr":{"name":"Alpha-cristallinopathie","synonyms":["Myopathie myofibrillaire liée à CRYAB"]},"de":{"name":"Alpha-Cristallinopathie","synonyms":["Myofibrilläre Myopathie, CRYAB-assoziierte"]},"es":{"name":"Alfa-cristalinopatía","synonyms":["Miopatía miofibrilar asociada a CRYAB"]},"it":{"name":"Alfa-cristallinopatia","synonyms":["Miopatia miofibrillare associata a CRYAB"]},"nl":{"name":"Alfa-crystallinopathie","synonyms":["CRYAB-gerelateerde myofobrillaire myopathie"]},"pt":{"name":"Cristalinopatia alfa (cryab)"},"pl":{"name":"Alfa-krystalinopatia","synonyms":["Miopatia miofibrylarna związana z CRYAB"]},"cs":{"name":"Alfa crystalinopatie","synonyms":["CRYAB-vázané myofibrilární myopatie"]},"uk":{"name":"Альфа-кристалінопатія","synonyms":["Міофобрилярна міопатія, повязана з CRYAB"]},"zh":{"name":"α-晶格蛋白病","synonyms":["CRYAB相关肌原纤维肌病"]},"tr":{"name":"Alfa-kristallinopati","synonyms":["CRYAB-ilişkili miyofobriller miyopati"]}},"xrefs":[{"source":"UMLS","code":"C5680317","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":209044,"name":"Qualitative or quantitative defects of alphaB-cristallin","classifications":[156]}],"children":[{"orpha":399058,"name":"Alpha-B crystallin-related late-onset myopathy","type":"Disease"},{"orpha":280553,"name":"Fatal infantile hypertonic myofibrillar myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}