{"orpha":98495,"name":"Genetic neuromuscular junction disease","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-98495/","orphanet_url":"https://www.orpha.net/en/disease/detail/98495","names":{"fr":{"name":"Maladie génétique de la jonction neuromusculaire"},"de":{"name":"Neuromuskuläre Übertragungsstörung, genetisch bedingte"},"es":{"name":"Enfermedad genética de la unión neuromuscular"},"it":{"name":"Malattia genetica delle giunzioni neuromuscolari"},"nl":{"name":"Genetische neuromusculaire junctiestoornis","synonyms":["Genetische neuromusculaire transmissiestoornis","Genetische stoornis van de motorische eindplaat"]},"pt":{"name":"Doença da junção neuromuscular genética"},"pl":{"name":"Genetyczna choroba połączeń nerwowo-mięśniowych"},"cs":{"name":"Geneticky podmíněné choroby nervosvalové ploténky"},"uk":{"name":"Генетично обумовлене захворювання нервово-мязового зєднання"},"zh":{"name":"遗传性神经肌肉接头疾病"},"tr":{"name":"Genetik kas sinir kavşağı hastalığı"}},"xrefs":[{"source":"UMLS","code":"C5681843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183497,"name":"Genetic neuromuscular disease","classifications":[156]},{"orpha":98491,"name":"Neuromuscular junction disease","classifications":[181]}],"children":[{"orpha":590,"name":"Congenital myasthenic syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}