autosomal dominant thrombophilia due to protein C deficiency (DOID:0111909)
Alliance: disease page
Synonyms: autosomal dominant PROC deficiency; autosomal dominant protein C deficiency; THPH3
Alt IDs: OMIM:176860, MESH:C567163, UMLS_CUI:C2674321
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.