{"orpha":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","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-98742/","orphanet_url":"https://www.orpha.net/en/disease/detail/98742","names":{"fr":{"name":"Canalopathie neurologique génétique associée au recepteur musculaire de la ryanodine"},"de":{"name":"Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Ryanodin-Rezeptordefekt"},"es":{"name":"Canalopatía neurológica muscular por un defecto genético del receptor de rianodina"},"it":{"name":"Canalopatia neurologica muscolare da difetto genetico del recettore rianodinico"},"nl":{"name":"Neurologische musculaire kanalopathie door een genetisch ryanodinereceptordefect"},"pt":{"name":"Canalopatia neurológica muscular por anomalia do canal de rianodina genética"},"pl":{"name":"Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu receptora rianodynowego"},"cs":{"name":"Neurologická svalová kanálopatie způsobená genetickou poruchou ryanodinového receptoru"},"uk":{"name":"Неврологічна мязова каналопатія внаслідок генетичного дефекту рецепторів рианодину"},"zh":{"name":"遗传性RyR受体缺陷所致神经肌肉离子通道病"},"tr":{"name":"Genetik ryanodin reseptör defektine bağlı nörolojik kas kanalopati"}},"xrefs":[{"source":"MONDO","code":"0957115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98737,"name":"Genetic neurological muscular channelopathy","classifications":[156,181]}],"children":[{"orpha":169186,"name":"Autosomal recessive centronuclear myopathy","type":"Disease"},{"orpha":324581,"name":"Benign Samaritan congenital myopathy","type":"Disease"},{"orpha":597,"name":"Central core disease","type":"Disease"},{"orpha":98905,"name":"Congenital multicore myopathy with external ophthalmoplegia","type":"Clinical subtype"},{"orpha":424107,"name":"Congenital myopathy with myasthenic-like onset","type":"Disease"},{"orpha":99741,"name":"King-Denborough syndrome","type":"Malformation syndrome"},{"orpha":423,"name":"Malignant hyperthermia of anesthesia","type":"Disease"},{"orpha":178145,"name":"Moderate multiminicore disease with hand involvement","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}