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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
Xenbase Genes : hjv
MONDO:0011216 - hemochromatosis type 2A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a),
hemochromatosis type 2 (is_a)