hemochromatosis type 3
Information
- Disease name
- hemochromatosis type 3
- Disease ID
- DOID:0111030
- Description
- "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802645]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2352
- Cross Reference ID (Disease Ontology)
- GARD:10093
- Cross Reference ID (Disease Ontology)
- MESH:C537248
- Cross Reference ID (Disease Ontology)
- MIM:604250
- Cross Reference ID (Disease Ontology)
- ORDO:225123
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:719974003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1858664
- Exact Synonym (Disease Ontology)
- hemochromatosis due to defect in transferrin receptor 2
- Exact Synonym (Disease Ontology)
- HFE3
- Exact Synonym (Disease Ontology)
- TFR2-related hemochromatosis
- OrphaNumber from OrphaNet (Orphanet)
- 225123