{"orpha":79219,"name":"Metabolic disease involving other neurotransmitter deficiency","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-79219/","orphanet_url":"https://www.orpha.net/en/disease/detail/79219","names":{"fr":{"name":"Maladie métabolique due à un déficit d'un autre neurotransmetteur"},"de":{"name":"Neurotransmitterstörung, sonstige"},"es":{"name":"Otro defecto de los neurotransmisores"},"it":{"name":"Difetto dei neurotrasmettitori, raro"},"nl":{"name":"Stofwisselingsziekte waarbij een andere neurotransmitterdeficiëntie betrokken is"},"pt":{"name":"Deficiência de neurotransmissor, outra"},"pl":{"name":"Choroba metaboliczna obejmująca Niedobór innych neurotransmiterów"},"cs":{"name":"Metabolická onemocnění zahrnující ostatní deficity neurotransmiterů"},"uk":{"name":"Метаболічні захворювання, повязані з дефіцитом інших нейромедіаторів"},"zh":{"name":"代谢疾病伴其他神经递质缺乏"},"tr":{"name":"Diğer nörotransmiter eksikliğini içeren metabolik hastalık"}},"xrefs":[{"source":"MONDO","code":"0019253","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19253","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79214,"name":"Disorder of biogenic amine metabolism and transport","classifications":[150,156]},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","classifications":[156,181]}],"children":[{"orpha":79097,"name":"Folinic acid-responsive seizures","type":"Disease"},{"orpha":132,"name":"Hereditary butyrylcholinesterase deficiency","type":"Disease"},{"orpha":3197,"name":"Hereditary hyperekplexia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}