OBO ID: DOID:0111678 |
Term Name: | hereditary folate malabsorption | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111678 ) |
OTHER hereditary folate malabsorption PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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