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thrombophilia due to thrombin defect
Summary
- Synonym
-
- THPH1
- prothrombin-related thrombophilia
- thrombophilia due to factor 2 defect
- Definition
- A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
- Super Class
- autosomal dominant disease thrombophilia
External Links
- Disease Ontology
- DOID:0111907
- UMLS
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00488 | Coagulation factor XIII A chain | |
| P00734 | Prothrombin | |
| Q14520 | Hyaluronan-binding protein 2 |
