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Summary Literature (0)
DOID:0050649 - atransferrinemia


Disease Ontology 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.

Synonyms: familial hypotransferrinemia

Xenbase Genes : tf

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008846 - atransferrinemia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), metal metabolism disorder (is_a)