{"orpha":79175,"name":"Disorder of gamma-aminobutyric acid metabolism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Disorder of GABA metabolism"],"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-79175/","orphanet_url":"https://www.orpha.net/en/disease/detail/79175","names":{"fr":{"name":"Trouble du métabolisme de l'acide gamma-aminobutyrique","synonyms":["Trouble du métabolisme de GABA"]},"de":{"name":"Gamma-Amino-Buttersäure-Stoffwechselstörung","synonyms":["GABA-Stoffwechselstörung"]},"es":{"name":"Trastornos del metabolismo del ácido gamma-aminobutírico","synonyms":["Enfermedad del metabolismo del GABA"]},"it":{"name":"Difetto del metabolismo dell'acido gamma-aminobutirrico","synonyms":["Difetto del metabolismo del GABA"]},"nl":{"name":"Stoornis van gamma-aminoboterzuurmetabolisme","synonyms":["Stoornis van GABA-metabolisme"]},"pt":{"name":"Doença do metabolismo do GABA"},"pl":{"name":"Zaburzenie metabolizmu kwasu gamma-aminomasłowego","synonyms":["Zaburzenie metabolizmu GABA"]},"cs":{"name":"Poruchy metabolismu kyseliny gamaaminomáselné","synonyms":["Poruchy metabolismu GABA"]},"uk":{"name":"Порушення обміну гамма-аміномасляної кислоти","synonyms":["Порушення метаболізму ГАМК"]},"zh":{"name":"γ-氨基丁酸代谢异常","synonyms":["GABA代谢异常"]},"tr":{"name":"Gama-aminobütirik asit metabolizması bozukluğu","synonyms":["GABA metabolizması bozukluğu"]}},"xrefs":[{"source":"ICD-11","code":"5C59.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1811657969"},{"source":"MONDO","code":"698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4702813","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]}],"children":[{"orpha":2066,"name":"Gamma-aminobutyric acid transaminase deficiency","type":"Disease"},{"orpha":22,"name":"Succinic semialdehyde dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}