prothrombin thrombophilia

Term ID

DOID:0080701

Synonyms

Definition

A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/21707594/

References

• OMIM:188050

Ontology

Human Disease   ( DOID:0080701 )