FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term hereditary folate malabsorption ID (Ontology) DOID:0111678 (Human Disease)
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.
Also Known As "congenital defect of folate absorption" ; "congenital folate malabsorption"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 hereditary folate malabsorption       6
 for disease ribbon | hereditary folate malabsorption       6
 model of | hereditary folate malabsorption       6
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
inherited metabolic disorder     |
 |__vitamin metabolic disorder___|
                                 hereditary folate malabsorption  6 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a vitamin metabolic disorder
autosomal recessive disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "congenital defect of folate absorption" EXACT
    "congenital folate malabsorption" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:12983
MESH:C562799
MIM:229050
NCI:C156424
ORDO:90045
SNOMEDCT_US_2023_03_01:62578003
UMLS_CUI:C0342705