{"orpha":98739,"name":"Neurological muscular channelopathy due to a genetic chloride channel 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-98739/","orphanet_url":"https://www.orpha.net/en/disease/detail/98739","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal chlore musculaire"},"de":{"name":"Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Chloridkanaldefekt"},"es":{"name":"Canalopatía neurológica muscular por un defecto genético del canal de cloruro"},"it":{"name":"Canalopatia neurologica genetica da difetto genetico del canale del cloro"},"nl":{"name":"Neurologische musculaire kanalopathie door een genetisch chloridekanaaldefect"},"pt":{"name":"Canalopatia neurológica muscular por anomalia do canal de cloro genética"},"pl":{"name":"Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału chlorowego"},"cs":{"name":"Neurologická svalová kanálopatie způsobená genetickou poruchou chloridového kanálu"},"uk":{"name":"Неврологічна мязова каналопатія внаслідок генетичного дефекту хлоридних каналів"},"zh":{"name":"遗传性氯通道缺陷所致神经肌肉离子通道病"},"tr":{"name":"Genetik klorür kanalı defektine bağlı nörolojik kas kanalopati"}},"xrefs":[{"source":"MONDO","code":"0957112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681687","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":614,"name":"Thomsen and Becker disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}