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MIRAGE
autosomal dominant thrombophilia due to protein C deficiency
Summary
- Synonym
-
- THPH3
- autosomal dominant PROC deficiency
- autosomal dominant protein C deficiency
- 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.
- Super Class
- protein C deficiency
External Links
- Disease Ontology
- DOID:0111909
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04070 | Vitamin K-dependent protein C |
