{"orpha":289841,"name":"Disorder of glutamine metabolism","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-289841/","orphanet_url":"https://www.orpha.net/en/disease/detail/289841","names":{"fr":{"name":"Trouble de métabolisme de la glutamine"},"de":{"name":"Glutamin-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo de la glutamina"},"it":{"name":"Difetto del metabolismo della glutammina"},"nl":{"name":"Stoornis van glutaminemetabolisme"},"pt":{"name":"Doença do metabolismo da glutamina"},"pl":{"name":"Zaburzenie metabolizmu glutaminy"},"cs":{"name":"Porucha metabolismu glutaminu"},"uk":{"name":"Порушення обміну глютаміну"},"zh":{"name":"谷氨酰胺代谢紊乱"},"tr":{"name":"Glutamin metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0017352","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":71278,"name":"Congenital brain dysgenesis due to glutamine synthetase deficiency","type":"Disease"},{"orpha":557064,"name":"Neonatal epileptic encephalopathy due to glutaminase deficiency","type":"Disease"},{"orpha":557056,"name":"Spastic ataxia-dysarthria due to glutaminase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}