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thrombophilia due to thrombomodulin defect
Summary
- Synonym
-
- THBD-related bleeding disorder
- THBD-related coagulopathy
- THPH12
- thrombomodulin-related bleeding disorder
- thrombomodulin-related coagulopathy
- Definition
- A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.
- Super Class
- autosomal genetic disease thrombophilia
External Links
- Disease Ontology
- DOID:0111908
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07204 | Thrombomodulin |
