| Metadata | |
|---|---|
| ID | DOID:0111028 |
| Name | hemochromatosis type 4 |
| Definition | A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. https://www.ncbi.nlm.nih.gov/pubmed/11431687 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719975002 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant hereditary hemochromatosis [EXACT] ferroportin disease [EXACT] hemochromatosis due to defect in ferroportin [EXACT] HFE4 [EXACT] |
| Parent Relationships |
is_a hemochromatosis |
| Subclass Logical Relationships |
disease has basis in some structural_variant |