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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,
Echinobase Genes :
MIM:604250 - hemochromatosis, type 3; hfe3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hemochromatosis (is_a)