{"orpha":289832,"name":"Disorder of lysine and hydroxylysine 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-289832/","orphanet_url":"https://www.orpha.net/en/disease/detail/289832","names":{"fr":{"name":"Trouble du métabolisme de la lysine et de l'hydroxylysine"},"de":{"name":"Lysin und Hydroxylysin-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo de la lisina y la hidroxilisina"},"it":{"name":"Difetto del metabolismo della lisina e dell'idrossilisina"},"nl":{"name":"Stoornis van lysine- en hydroxylysinemetabolisme"},"pt":{"name":"Doença do metabolismo da lisina e hidroxilisina"},"pl":{"name":"Zaburzenie metabolizmu lizyny i hydroksylizyny"},"cs":{"name":"Porucha metabolismu lysinu a hydroxylysinu"},"uk":{"name":"Порушення обміну лізину та гідроксилізину"},"zh":{"name":"赖氨酸和羟赖氨酸代谢紊乱"},"tr":{"name":"Lizin ve hidroksilisin metabolizmasında bozukluk"}},"xrefs":[{"source":"ICD-10","code":"E72.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C50.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"367868681"},{"source":"MONDO","code":"0017351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268552","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":79154,"name":"2-aminoadipic 2-oxoadipic aciduria","type":"Disease"},{"orpha":2203,"name":"Hyperlysinemia","type":"Disease"},{"orpha":3124,"name":"Saccharopinuria","type":"Disease"},{"orpha":79156,"name":"Seizures-intellectual disability due to hydroxylysinuria syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}