Search Ontology:
Human Disease

atransferrinemia

Term ID
DOID:0050649
Synonyms
  • familial hypotransferrinemia
Definition
A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (3)
References
Ontology
Human Disease   ( DOID:0050649 )
Relationships
is a type of
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Genes Involved
Zebrafish Models