OBO ID: DOID:0060474
Term Name: familial erythrocytosis 2 Search Ontology:
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)
OTHER familial erythrocytosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VHL Erythrocytosis, familial, 2 263400
PHENOTYPE No data available

CITATIONS (1)