Search Ontology:
Human Disease

heparin cofactor II deficiency

Term ID
DOID:0111901
Synonyms
  • HCF 2 deficiency
  • HCF II deficiency
  • THPH10
  • thrombophilia due to heparin cofactor II deficiency
Definition
A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. (2)
References
  • MESH:C562865
  • MIM:612356
  • SNOMEDCT_US_2023_03_01:234468009
  • UMLS_CUI:C0398626
Ontology
Human Disease   ( DOID:0111901 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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