| Metadata | |
|---|---|
| ID | DOID:0111027 |
| Name | hemochromatosis type 2A |
| Definition | A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/14647275 |
| Xrefs | |
| Synonyms |
HFE2A [EXACT] |
| Parent Relationships |