| Metadata | |
|---|---|
| ID | DOID:0111030 |
| Name | hemochromatosis type 3 |
| Definition | A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/10802645 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719974003 |
| Subsets |
DO_rare_slim |
| Synonyms |
hemochromatosis due to defect in transferrin receptor 2 [EXACT] HFE3 [EXACT] TFR2-related hemochromatosis [EXACT] |
| Parent Relationships |
is_a hemochromatosis |