familial erythrocytosis 2
Information
- Disease name
- familial erythrocytosis 2
- Disease ID
- DOID:0060474
- Description
- "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15725900]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:10780
- Cross Reference ID (Disease Ontology)
- ICD10CM:D75.1
- Cross Reference ID (Disease Ontology)
- MIM:263400
- Cross Reference ID (Disease Ontology)
- ORDO:238557
- Exact Synonym (Disease Ontology)
- autosomal recessive benign erythrocytosis
- Exact Synonym (Disease Ontology)
- Chuvash erythromatosis
- Exact Synonym (Disease Ontology)
- Chuvash polycythemia
- Exact Synonym (Disease Ontology)
- Chuvash type polycythemia
- Exact Synonym (Disease Ontology)
- ECYT2