Search Ontology:
Human Disease

thrombophilia due to thrombomodulin defect

Term ID
DOID:0111908
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. https://pubmed.ncbi.nlm.nih.gov/22036808/
References
Ontology
Human Disease   ( DOID:0111908 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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