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Echinobase
Summary Literature (0)
DOID:0111027 - hemochromatosis type 2A

Disease Ontology Definition:A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.

Synonyms: HFE2A,

Echinobase Genes :


OMIM:
MIM:602390 - hemochromatosis, type 2a; hfe2a hemochromatosis, type 2, included; hfe2, included;; hemochromatosis, juvenile, included; jh, included

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): hemochromatosis type 2 (is_a)