familial erythrocytosis 4

Term ID

DOID:0080339

Synonyms

• ECYT4

Definition

A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/18184961

References

• OMIM:611783

Ontology

Human Disease   ( DOID:0080339 )