{"orpha":98748,"name":"Neurological channelopathy of the central nervous system due to a genetic acetylcholine 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-98748/","orphanet_url":"https://www.orpha.net/en/disease/detail/98748","names":{"fr":{"name":"Canalopathie neurologique génétique associée au recepteur de l'acétylcholine du système nerveux central"},"de":{"name":"Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Acetylcholin-Rezeptordefekt"},"es":{"name":"Canalopatía neurológica del sistema nervioso central por un defecto genético del receptor de acetilcolina"},"it":{"name":"Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore acetilcolinico"},"nl":{"name":"Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van acetylcholinereceptor"},"pt":{"name":"Canalopatia neurológica do sistema nervoso central por defeito genético do recetor de acetilcolina"},"pl":{"name":"Neurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu receptora dla acetylocholiny"},"cs":{"name":"Kanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou receptoru pro acetylcholin"},"uk":{"name":"Неврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту ацетилхолінових рецепторів"},"zh":{"name":"遗传性乙酰胆碱受体缺陷所致神经离子通道病"},"tr":{"name":"Genetik asetilkolin reseptör defekti nedeniyle merkezi sinir sisteminin nörolojik kanalopatisi"}},"xrefs":[{"source":"UMLS","code":"C5681701","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98743,"name":"Genetic neurological channelopathy of the central nervous system","classifications":[156]}],"children":[{"orpha":98784,"name":"Sleep-related hypermotor epilepsy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}