autosomal dominant thrombophilia due to protein C deficiency

Term ID

DOID:0111909

Synonyms

• autosomal dominant PROC deficiency
• autosomal dominant protein C deficiency
• THPH3

Definition

A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (3)

References

• MESH:C567163
• MIM:176860
• UMLS_CUI:C2674321

Ontology

Human Disease   ( DOID:0111909 )