{"orpha":98740,"name":"Neurological muscular channelopathy due to a genetic calcium 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-98740/","orphanet_url":"https://www.orpha.net/en/disease/detail/98740","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal calcique musculaire"},"de":{"name":"Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kalziumkanaldefekt"},"es":{"name":"Canalopatía neurológica muscular por un defecto genético de los canales de calcio"},"it":{"name":"Canalopatia neurologica genetica da difetto genetico del canale del calcio"},"nl":{"name":"Neurologische musculaire kanalopathie door een genetisch calciumkanaaldefect"},"pt":{"name":"Canalopatia neurológica muscular por anomalia do canal de cálcio genética"},"pl":{"name":"Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału wapniowego"},"cs":{"name":"Neurologická svalová kanálopatie způsobená genetickou poruchou vápníkového kanálu"},"uk":{"name":"Неврологічна мязова каналопатія внаслідок генетичного дефекту кальцієвих каналів"},"zh":{"name":"遗传性钙通道缺陷所致神经肌肉离子通道病"},"tr":{"name":"Genetik kalsiyum kanalı defektine bağlı nörolojik kas kanalopati"}},"xrefs":[{"source":"MONDO","code":"0957113","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681686","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":681,"name":"Hypokalemic periodic paralysis","type":"Disease"},{"orpha":397755,"name":"Periodic paralysis with transient compartment-like syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}