{"orpha":309319,"name":"Disorder of sialic acid 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-309319/","orphanet_url":"https://www.orpha.net/en/disease/detail/309319","names":{"fr":{"name":"Trouble du métabolisme de l'acide sialique"},"de":{"name":"Sialinsäure-Stoffwechselstörung"},"es":{"name":"Trastornos del metabolismo del ácido siálico"},"it":{"name":"Difetto del metabolismo dell'acido sialico"},"nl":{"name":"Stoornis van siaalzuurmetabolisme"},"pt":{"name":"Alteração do metabolismo do ácido siálico"},"pl":{"name":"Zaburzenia metabolizmu kwasu sialowego"},"cs":{"name":"Poruchy metabolismu sialové kyseliny"},"uk":{"name":"Порушення обміну сіалової кислоти"},"zh":{"name":"唾液酸代谢紊乱"},"tr":{"name":"Sialik asit metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C56.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1709765980"},{"source":"MONDO","code":"0017736","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342851","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]}],"children":[{"orpha":3166,"name":"Sialuria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}