{"orpha":285657,"name":"Disorder of folate metabolism and 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-285657/","orphanet_url":"https://www.orpha.net/en/disease/detail/285657","names":{"fr":{"name":"Anomalie du métabolisme et du transport des folates"},"de":{"name":"Folsäure-Stoffwechsel- und Transportstörung","synonyms":["Störung des Folat-Stoffwechsels"]},"es":{"name":"Trastorno del metabolismo y transporte del folato"},"it":{"name":"Difetto del metabolismo e del trasporto del folato"},"nl":{"name":"Stoornis van foliumzuurmetabolisme en -transport","synonyms":["Stoornis van folaatmetabolisme en -transport"]},"pt":{"name":"Doença do metabolismo do folato"},"pl":{"name":"Zaburzenia metabolizmu i transportu kwasu foliowego"},"cs":{"name":"Porucha metabolizmu a transportu folátů"},"uk":{"name":"Порушення метаболізму та транспорту фолатів"},"zh":{"name":"叶酸代谢和转运障碍"},"tr":{"name":"Folat metabolizması ve taşınmasında bozukluk"}},"xrefs":[{"source":"ICD-11","code":"5C63.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2081529009"},{"source":"MONDO","code":"0017313","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309827,"name":"Disorder of vitamin and non-protein cofactor absorption and transport","classifications":[150,156]}],"children":[{"orpha":658813,"name":"Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency","type":"Disease"},{"orpha":319651,"name":"Constitutional megaloblastic anemia with severe neurologic disease","type":"Disease"},{"orpha":51208,"name":"Formiminoglutamic aciduria","type":"Disease"},{"orpha":90045,"name":"Hereditary folate malabsorption","type":"Disease"},{"orpha":395,"name":"Homocystinuria due to methylene tetrahydrofolate reductase deficiency","type":"Disease"},{"orpha":597874,"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","type":"Disease"},{"orpha":661412,"name":"Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency","type":"Disease"},{"orpha":217382,"name":"Neurodegenerative syndrome due to cerebral folate transport deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}