Search Ontology:
Human Disease

familial erythrocytosis 2

Term ID
DOID:0060474
Synonyms
  • autosomal recessive benign erythrocytosis
  • Chuvash erythromatosis
  • Chuvash polycythemia
  • Chuvash type polycythemia
  • ECYT2
Definition
A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/15725900
References
Ontology
Human Disease   ( DOID:0060474 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models