thrombophilia due to thrombomodulin defect Disease Ontology Browser

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Disease Ontology Browser

thrombophilia due to thrombomodulin defect (DOID:0111908)
Alliance: disease page
Synonyms: THBD-related bleeding disorder; THBD-related coagulopathy; THPH12; thrombomodulin-related bleeding disorder; thrombomodulin-related coagulopathy
Alt IDs: OMIM:614486, MESH:C566057, ORDO:436169, UMLS_CUI:C3280976
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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