Term Name: | thrombophilia due to thrombomodulin defect |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111908] ( DOID:0111908 ) |