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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,

Xenbase Genes : bmp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0021001 - hemochromatosis type 1

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

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)