OBO ID: DOID:0111678
Term Name: hereditary folate malabsorption Search Ontology:
Synonyms:
  • congenital defect of folate absorption
  • congenital folate malabsorption
Definition: 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. (2)
References:
Ontology: Human Disease   (DOID:0111678)
OTHER hereditary folate malabsorption PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC46A1 Folate malabsorption, hereditary 229050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None