{"orpha":79192,"name":"Disorder of pyridoxine 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-79192/","orphanet_url":"https://www.orpha.net/en/disease/detail/79192","names":{"fr":{"name":"Trouble du métabolisme de la pyrodoxine"},"de":{"name":"Pyridoxin-Stoffwechselstörung"},"es":{"name":"Enfermedad del metabolismo de la piridoxina"},"it":{"name":"Malattia del metabolismo della piridossina"},"nl":{"name":"Stoornis van pyridoxinemetabolisme"},"pt":{"name":"Doença do metabolismo da piridoxina"},"pl":{"name":"Zaburzenie metabolizmy pirydoksyny"},"cs":{"name":"Poruchy metabolismu pyridoxinu"},"uk":{"name":"Порушення обміну піридоксину"},"zh":{"name":"吡多辛代谢异常"},"tr":{"name":"Piridoksin metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C59.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1860570911"},{"source":"MONDO","code":"0019237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681285","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79214,"name":"Disorder of biogenic amine metabolism and transport","classifications":[150,156]}],"children":[{"orpha":79096,"name":"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","type":"Disease"},{"orpha":3006,"name":"Pyridoxine-dependent-developmental and epileptic encephalopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}