hemochromatosis type 1

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Echinobase

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bmp2

MIM:

MIM:235200 - hemochromatosis, type 1; hfe1

MIM:235200 - hemochromatosis, type 1; hfe1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hemochromatosis (is_a)