{"orpha":79193,"name":"Disorder of 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-79193/","orphanet_url":"https://www.orpha.net/en/disease/detail/79193","names":{"fr":{"name":"Trouble du métabolisme de la pyrimidine"},"de":{"name":"Pyrimidin-Stoffwechselstörung"},"es":{"name":"Enfermedad del metabolismo de la pirimidina"},"it":{"name":"Malattia del metabolismo della pirimidina"},"nl":{"name":"Stoornis van pyrimidinemetabolisme"},"pt":{"name":"Doença do metabolismo das pirimidinas"},"pl":{"name":"Zaburzenie metabolizmu pirymidyn"},"cs":{"name":"Poruchy metabolismu pyrimidinů"},"uk":{"name":"Порушення метаболізму піримідинів"},"zh":{"name":"嘧啶代谢异常"},"tr":{"name":"Pirimidin metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C55.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"771608363"},{"source":"MONDO","code":"0019238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268127","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070969","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79224,"name":"Disorder of purine or pyrimidine metabolism","classifications":[150,156]}],"children":[{"orpha":65287,"name":"Beta-ureidopropionase deficiency","type":"Disease"},{"orpha":448010,"name":"CAD-CDG","type":"Disease"},{"orpha":1675,"name":"Dihydropyrimidine dehydrogenase deficiency","type":"Disease"},{"orpha":38874,"name":"Dihydropyrimidinuria","type":"Disease"},{"orpha":35120,"name":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","type":"Disease"},{"orpha":30,"name":"Hereditary orotic aciduria","type":"Disease"},{"orpha":309147,"name":"Hyper-beta-alaninemia","type":"Disease"},{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease"},{"orpha":254875,"name":"TK2-related mitochondrial DNA maintenance defect, myopathic form","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}