{"orpha":309130,"name":"Disorder of carnitine cycle and carnitine transport","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-309130/","orphanet_url":"https://www.orpha.net/en/disease/detail/309130","names":{"fr":{"name":"Trouble du cycle de la carnitine et du transport de la carnitine"},"de":{"name":"Carnitin-Stoffwechselstörung"},"es":{"name":"Trastornos del ciclo de la carnitina y del transporte de la carnitina"},"it":{"name":"Difetto del ciclo e del trasporto della carnitina"},"nl":{"name":"Stoornis van carnitinecyclus en carnitinetransport"},"pt":{"name":"Alteração do ciclo de carnitina e transporte de carnitina"},"pl":{"name":"Zaburzenia cyklu karnitynowego i transportu karnityny"},"cs":{"name":"Poruchy karnitinového cyklu a transportu karnitinu"},"uk":{"name":"Порушення карнітинового циклу та транспорту карнітину"},"zh":{"name":"肉碱循环-运输紊乱"},"tr":{"name":"Karnitin döngüsü ve karnitin taşınmasında bozukluk"}},"xrefs":[{"source":"ICD-11","code":"5C52.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"890605309"},{"source":"MONDO","code":"0017716","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681080","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79174,"name":"Disorder of fatty acid oxidation and ketone body metabolism","classifications":[150,156]}],"children":[{"orpha":156,"name":"Carnitine palmitoyl transferase 1A deficiency","type":"Disease"},{"orpha":157,"name":"Carnitine palmitoyltransferase II deficiency","type":"Disease"},{"orpha":159,"name":"Carnitine-acylcarnitine translocase deficiency","type":"Disease"},{"orpha":158,"name":"Systemic primary carnitine deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}