{"orpha":309819,"name":"Disorder of pterin 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-309819/","orphanet_url":"https://www.orpha.net/en/disease/detail/309819","names":{"fr":{"name":"Trouble du métabolisme des ptérines"},"de":{"name":"Pterin-Stoffwechselstörung"},"es":{"name":"Trastornos del metabolismo de la pterina"},"it":{"name":"Difetto del metabolismo della pterina"},"nl":{"name":"Stoornis van pterinemetabolisme"},"pt":{"name":"Alteração do metabolismo de pterina"},"pl":{"name":"Zaburzenia metabolizmu pteryny"},"cs":{"name":"Poruchy pterinového metabolismu"},"uk":{"name":"Порушення обміну птерину"},"zh":{"name":"蝶呤代谢紊乱"},"tr":{"name":"Pterin metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C59.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1801446733"},{"source":"MONDO","code":"17756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79169,"name":"Disorder of neurotransmitter metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":255,"name":"Dopa-responsive dystonia","type":"Clinical group"},{"orpha":508523,"name":"Hyperphenylalaninemia due to DNAJC12 deficiency","type":"Disease"},{"orpha":238583,"name":"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}