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OBO ID: DOID:0111908
Term Name: thrombophilia due to thrombomodulin defect Search Ontology:
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 THBD on chromosome 20p11.21. https://pubmed.ncbi.nlm.nih.gov/22036808/
References:
Ontology: Human Disease   (DOID:0111908)
OTHER thrombophilia due to thrombomodulin defect PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
THBD Thrombophilia due to thrombomodulin defect 614486
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None