Term Name: | autosomal dominant thrombophilia due to protein S deficiency |
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Synonyms: | THPH5 |
Definition: | A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. |
Ontology: | Human Disease [DOID:0111900] ( DOID:0111900 ) |