Term Name: | hemochromatosis type 1 |
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Synonyms: | HFE1, symptomatic form of classic hemochromatosis, symptomatic form of hemochromatosis type 1, symptomatic form of HFE-related hereditary hemochromatosis |
Definition: | A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. |
Ontology: | Human Disease [DOID:0111029] ( DOID:0111029 ) |