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

• ICD10CM:D75.1
• OMIM:263400
• ORDO:238557

Ontology

Human Disease   ( DOID:0060474 )