Search Ontology:
Human Disease

hereditary folate malabsorption

Term ID
DOID:0111678
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 the SLC46A1 gene on chromosome 17q11.2. (2)
References
Ontology
Human Disease   ( DOID:0111678 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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