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Summary Literature (0)
DOID:0111030 - hemochromatosis type 3

Disease Ontology Definition:A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

Synonyms: HFE3, TFR2-related hemochromatosis, hemochromatosis due to defect in transferrin receptor 2,

Xenbase Genes : tfr2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011417 - hemochromatosis type 3


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), hemochromatosis (is_a)