Term Name: | hemochromatosis type 3 |
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Synonyms: | hemochromatosis due to defect in transferrin receptor 2, HFE3, TFR2-related hemochromatosis |
Definition: | A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. |
Ontology: | Human Disease [DOID:0111030] ( DOID:0111030 ) |