hemochromatosis type 2A
Information
- Disease name
- hemochromatosis type 2A
- Disease ID
- DOID:0111027
- Description
- "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/14647275]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111034
- Cross Reference ID (Disease Ontology)
- MIM:602390
- Exact Synonym (Disease Ontology)
- HFE2A
- MedGen concept unique identifier (MedGen Concept name)
- C1865614
- MedGen unique identifier (MedGen Concept name)
- 356321