{"orpha":79224,"name":"Disorder of purine or pyrimidine 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-79224/","orphanet_url":"https://www.orpha.net/en/disease/detail/79224","names":{"fr":{"name":"Trouble du métabolisme des purines ou pyrimidines"},"de":{"name":"Purin/Pyrimidin-Stoffwechselstörung"},"es":{"name":"Enfermedad del metabolismo de las purinas o pirimidinas"},"it":{"name":"Malattia del metabolismo della purina o pirimidina"},"nl":{"name":"Stoornis van purine- of pyrimidinemetabolisme"},"pt":{"name":"Doença do metabolismo das purinas ou pirimidinas"},"pl":{"name":"Zaburzenie metabolizmu puryn i pirymidyn"},"cs":{"name":"Porucha metabolismu purinů nebo pyrimidinů"},"uk":{"name":"Порушення пуринового або піримідинового обміну"},"zh":{"name":"嘌呤或嘧啶代谢异常"},"tr":{"name":"Pürin veya pirimidin metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0019254","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19254","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011686","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0034139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037546","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68367,"name":"Rare inborn error of metabolism","classifications":[150,156]}],"children":[{"orpha":79191,"name":"Disorder of purine metabolism","type":"Category"},{"orpha":79193,"name":"Disorder of pyrimidine metabolism","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}