{"orpha":391381,"name":"Disorder of asparagine 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-391381/","orphanet_url":"https://www.orpha.net/en/disease/detail/391381","names":{"fr":{"name":"Trouble du métabolisme de l'asparagine"},"de":{"name":"Asparagin-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo de la asparagina"},"it":{"name":"Difetto del metabolismo dell'asparagina"},"nl":{"name":"Stoornis van asparaginemetabolisme"},"pt":{"name":"Alteração do metabolismo da asparagina"},"pl":{"name":"Zaburzenia metabolizmu kwasu asparaginianowego"},"cs":{"name":"Poruchy metabolismu asparaginu"},"uk":{"name":"Порушення метаболізму аспарагіну"},"zh":{"name":"天冬酰胺代谢紊乱"},"tr":{"name":"Asparajin metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"18318","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681155","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":391376,"name":"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}