{"orpha":172976,"name":"Congenital myopathy with cores","type":"Clinical group","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-172976/","orphanet_url":"https://www.orpha.net/en/disease/detail/172976","names":{"fr":{"name":"Myopathie congénitale avec cores"},"de":{"name":"Kongenitale Myopathie mit Kern (Core-Krankheiten)"},"es":{"name":"Miopatía congénita con cores"},"it":{"name":"Miopatia congenita con strutture centrali"},"nl":{"name":"Congenitale myopathie met kernen"},"pt":{"name":"Miopatia congénita com núcleos"},"pl":{"name":"Wrodzona miopatia z jądrami"},"cs":{"name":"Vrozená myopatie s \"cores"},"uk":{"name":"Вроджена міопатія з ядрами"},"zh":{"name":"先天性核肌病"},"tr":{"name":"Çekirdekli doğumsal miyopati"}},"xrefs":[{"source":"MONDO","code":"15765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680516","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[{"orpha":597,"name":"Central core disease","type":"Disease"},{"orpha":319160,"name":"Congenital myopathy with internal nuclei and atypical cores","type":"Disease"},{"orpha":598,"name":"Multiminicore myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}