atransferrinemia (DOID:0050649)
Alliance: disease page
Synonyms: familial hypotransferrinemia
Alt IDs: OMIM:209300, NCI:C125693, ORDO:1195
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.