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Summary Literature (0)
DOID:0111908 - thrombophilia due to thrombomodulin defect

Disease Ontology 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.

Synonyms: THBD-related bleeding disorder, THBD-related coagulopathy, THPH12, thrombomodulin-related bleeding disorder, thrombomodulin-related coagulopathy

Xenbase Genes : thbd


MIM:
MIM:614486 - THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), thrombophilia (is_a)