Human genes for hereditary folate malabsorption
Hereditary folate malabsorption [DOID:0111678]
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 SLC46A1 on chromosome 17q11.2.
Synonyms: hereditary folate malabsorption, DOID:0111678, familial folate malabsorption, hereditary folate malabsorptions, congenital defect of folate absorption ...