{"orpha":98408,"name":"Constitutional megaloblastic anemia due to folate metabolism disorder","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-98408/","orphanet_url":"https://www.orpha.net/en/disease/detail/98408","names":{"fr":{"name":"Anémie mégaloblastique constitutionnelle par déficit en métabolisme du folate"},"de":{"name":"Anämie, megaloblastische, Folat-abhängig"},"es":{"name":"Anemia megaloblástica constitucional por trastornos en el metabolismo del folato"},"it":{"name":"Anemia megaloblastica costituzionale da difetto del metabolismo dei folati"},"nl":{"name":"Constitutionele megaloblastische anemie als gevolg van folaatstofwisselingsstoornis"},"pt":{"name":"Anemia megaloblástica relacionada com folato"},"pl":{"name":"Niedokrwistość megaloblastyczna konstytucjonalna z powodu zaburzenia metabolizmu kwasu foliowego"},"cs":{"name":"Konstituční megaloblastická anémie způsobená poruchou metabolismu folátů"},"uk":{"name":"Конституціональна мегалобластична анемія внаслідок порушення обміну фолатів"},"zh":{"name":"叶酸代谢障碍所致原发性巨幼细胞贫血"},"tr":{"name":"Folat metabolizması bozukluğuna bağlı yapısal megaloblastik anemi"}},"xrefs":[{"source":"UMLS","code":"C5681711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248296,"name":"Constitutional deficiency anemia","classifications":[156,194]}],"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":661412,"name":"Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}