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Echinobase
Summary Literature (0)
DOID:0111028 - hemochromatosis type 4


Disease Ontology Definition:A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32.

Synonyms: HFE4, autosomal dominant hereditary hemochromatosis, ferroportin disease, hemochromatosis due to defect in ferroportin,

Echinobase Genes :


OMIM:
MIM:606069 - hemochromatosis, type 4; hfe4

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

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