Term Name: | atransferrinemia |
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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. |
Ontology: | Human Disease [DOID:0050649] ( DOID:0050649 ) |