| Metadata | |
|---|---|
| ID | DOID:0111031 |
| Name | hemochromatosis type 5 |
| Definition | A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. https://www.ncbi.nlm.nih.gov/pubmed/11389486 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
FTH1-associated iron overload [EXACT] FTH1-related iron overload [EXACT] HFE5 [EXACT] |
| Parent Relationships |
is_a hemochromatosis |
| Subclass Logical Relationships |
disease has basis in some structural_variant |