1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111027 | hemochromatosis type 2A | A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |