hemochromatosis type 4
Information
- Disease name
- hemochromatosis type 4
- Disease ID
- DOID:0111028
- Description
- "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431687]
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:10094
- Cross Reference ID (Disease Ontology)
- MESH:C537249
- Cross Reference ID (Disease Ontology)
- MIM:606069
- Cross Reference ID (Disease Ontology)
- ORDO:139491
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:719975002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1853733
- Exact Synonym (Disease Ontology)
- autosomal dominant hereditary hemochromatosis
- Exact Synonym (Disease Ontology)
- ferroportin disease
- Exact Synonym (Disease Ontology)
- hemochromatosis due to defect in ferroportin
- Exact Synonym (Disease Ontology)
- HFE4
- OrphaNumber from OrphaNet (Orphanet)
- 139491
- MedGen concept unique identifier (MedGen Concept name)
- C1853733
- MedGen unique identifier (MedGen Concept name)
- 340044