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About: hereditary folate malabsorption     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • hereditary folate malabsorption
described by
id
  • DOID:0111678
database_cross_reference
  • GARD:12983
  • MESH:C562799
  • NCI:C156424
  • OMIM:229050
  • ORDO:90045
  • SNOMEDCT_US_2021_09_01:62578003
  • UMLS_CUI:C0342705
has_exact_synonym
  • congenital defect of folate absorption (en)
  • congenital folate malabsorption (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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