Mondo Description Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.

Uniprot Description A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Disease Ontology Description A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12.