| Metadata | |
|---|---|
| ID | DOID:0111029 |
| Name | hemochromatosis type 1 |
| Definition | A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. https://www.ncbi.nlm.nih.gov/pubmed/8696333 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HFE1 [EXACT] symptomatic form of classic hemochromatosis [EXACT] symptomatic form of hemochromatosis type 1 [EXACT] symptomatic form of HFE-related hereditary hemochromatosis [EXACT] |
| Parent Relationships |
is_a hemochromatosis |
| Subclass Logical Relationships |
disease has basis in some structural_variant |