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Summary Literature (0)
DOID:0111034 - hemochromatosis type 2

Disease Ontology Definition:A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.

Synonyms: HFE2, JHH, juvenile hemochromatosis,

Xenbase Genes : hjv, hamp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019257 - hemochromatosis type 2


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

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