{"orpha":538238,"name":"Neurological channelopathy of the central nervous system 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-538238/","orphanet_url":"https://www.orpha.net/en/disease/detail/538238","names":{"fr":{"name":"Canalopathie neurologique génétique associée au canal chlore du système nerveux central"},"de":{"name":"Neurologische Ionenkanalkrankheit des ZNS bei genetisch bedingtem Chloridkanaldefekt"},"es":{"name":"Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de cloruro"},"it":{"name":"Canalopatia neurologica genetica del sistema nervoso centrale da difetto del canale del cloro"},"nl":{"name":"Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van chloridekanaal"},"pt":{"name":"Canalopatia neurológica do sistema nervoso central por defeito genético do canal de cloro"},"pl":{"name":"Kanałopatia neurologiczna ośrodkowego układu nerwowego z powodu genetycznej wady kanału chlorkowego"},"cs":{"name":"Neurologická kanalopatie centrálního nervového systému způsobená genetickou poruchou chloridového kanálu"},"uk":{"name":"Неврологічна каналопатія центральної нервової системи внаслідок генетично обумовленого дефекту хлоридних каналів"},"zh":{"name":"遗传性氯化物通道缺陷诱导的中枢神经系统离子通道疾病"},"tr":{"name":"Genetik klorür kanalı bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi"}},"xrefs":[{"source":"UMLS","code":"C5681315","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":485350,"name":"CLCN4-related X-linked intellectual disability syndrome","type":"Disease"},{"orpha":363540,"name":"Leukoencephalopathy with mild cerebellar ataxia and white matter edema","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}