Term Name: | autosomal dominant thrombophilia due to protein C deficiency |
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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. |
Ontology: | Human Disease [DOID:0111909] ( DOID:0111909 ) |