| Metadata | |
|---|---|
| ID | DOID:0111032 |
| Name | hemochromatosis type 2B |
| Definition | A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/12469120 |
| Xrefs | |
| Synonyms |
HFE2B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |