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Summary Literature (0)
DOID:0111029 - hemochromatosis type 1


Disease Ontology Definition:A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.

Synonyms: HFE1, symptomatic form of HFE-related hereditary hemochromatosis, symptomatic form of classic hemochromatosis, symptomatic form of hemochromatosis type 1

In OMIM:
OMIM:235200 - HEMOCHROMATOSIS, TYPE 1; HFE1

In Mondo Disease Ontology:
MONDO:0021001 - hemochromatosis type 1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : bmp2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): genetic disease (is_a), hemochromatosis (is_a)