DO_rare_slim NCIthesaurus has material basis in vitamin metabolic disorder autosomal recessive disease hereditary folate malabsorption DOID:0111678 GARD:12983 A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. SNOMEDCT_US_2025_09_01:62578003 NCI:C156424 MIM:229050 MESH:C562799 UMLS_CUI:C0342705 congenital defect of folate absorption congenital folate malabsorption disease_ontology ORDO:90045 autosomal recessive inheritance