Term Name: | hemochromatosis type 2A |
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Synonyms: | HFE2A |
Definition: | A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. |
Ontology: | Human Disease [DOID:0111027] ( DOID:0111027 ) |