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Thrombophilia, hereditary MeSH Supplementary Concept Data 2025
Thrombophilia due to congenital factors. Germline mutations in the F5 gene have been identified for Protein C/Factor V Leiden (OMIM: 188055), in the HRG gene for histidine-rich glycoprotein deficiency (OMIM: 613116); PROC gene for PROTEIN C DEFICIENCY (OMIM: 176860); and the PROS1 gene for PROTEIN S DEFICIENCY (OMIM: 612336)