Search Ontology:
Human Disease
hemochromatosis type 3
- Term ID
- DOID:0111030
- Synonyms
-
- hemochromatosis due to defect in transferrin receptor 2
- HFE3
- TFR2-related hemochromatosis
- 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
- References
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- GARD:10093
- MESH:C537248
- MIM:604250
- ORDO:225123
- SNOMEDCT_US_2023_03_01:719974003
- UMLS_CUI:C1858664
- Ontology
- Human Disease ( DOID:0111030 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models