{"orpha":284814,"name":"Disorder of phenylalanine 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-284814/","orphanet_url":"https://www.orpha.net/en/disease/detail/284814","names":{"fr":{"name":"Trouble du métabolisme de la phénylalanine"},"de":{"name":"Phenylalanin-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo de la fenilalanina"},"it":{"name":"Difetto del metabolismo della fenilalanina"},"nl":{"name":"Stoornis van fenylalaninemetabolisme"},"pt":{"name":"Doença do metabolismo da fenilalanina"},"pl":{"name":"Zaburzenia metabolizmu fenyloalaniny"},"cs":{"name":"Poruchy metabolismu fenylalaninu"},"uk":{"name":"Порушення обміну фенілаланіну"},"zh":{"name":"苯丙氨酸代谢紊乱"},"tr":{"name":"Fenilalanin metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0017306","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268461","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79190,"name":"Disorder of phenylalanin or tyrosine metabolism","classifications":[150,156]}],"children":[{"orpha":708881,"name":"Phenylalanine hydroxylase deficiency","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}