{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium 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-98738/","orphanet_url":"https://www.orpha.net/en/disease/detail/98738","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal sodique musculaire"},"de":{"name":"Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Natriumkanaldefekt"},"es":{"name":"Canalopatía neurológica muscular por un defecto genético de los canales de sodio"},"it":{"name":"Canalopatia neurologica genetica da difetto genetico del canale del sodio"},"nl":{"name":"Neurologische musculaire kanalopathie door een genetisch natriumkanaaldefect"},"pt":{"name":"Canalopatia neurológica muscular por anomalia do canal de sódio genética"},"pl":{"name":"Neurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału sodowego"},"cs":{"name":"Neurologická svalová kanálopatie způsobená genetickou poruchou sodíkového kanálu"},"uk":{"name":"Неврологічна мязова каналопатія внаслідок генетичного дефекту натрієвих каналів"},"zh":{"name":"遗传性钠通道缺陷所致神经肌肉离子通道病"},"tr":{"name":"Genetik sodyum kanalı defektine bağlı nörolojik kas kanalopati"}},"xrefs":[{"source":"MONDO","code":"0957111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681681","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":562528,"name":"Congenital limbs-face contractures-hypotonia-developmental delay syndrome","type":"Malformation syndrome"},{"orpha":1146,"name":"Distal arthrogryposis type 1","type":"Malformation syndrome"},{"orpha":2053,"name":"Freeman-Sheldon syndrome","type":"Malformation syndrome"},{"orpha":682,"name":"Hyperkalemic periodic paralysis","type":"Disease"},{"orpha":681,"name":"Hypokalemic periodic paralysis","type":"Disease"},{"orpha":684,"name":"Paramyotonia congenita of Von Eulenburg","type":"Disease"},{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","type":"Etiological subtype"},{"orpha":612,"name":"Potassium-aggravated myotonia","type":"Clinical group"},{"orpha":1147,"name":"Sheldon-Hall syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}