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DO Term : heparin cofactor II deficiency [DOID:0111901] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.
  • synonyms:
  • HCF II deficiency,
  • MESH:C562865,
  • THPH10,
  • UMLS_CUI:C0398626,
  • SNOMEDCT_US_2023_03_01:234468009,
  • HCF 2 deficiency,
  • 612356,
  • OMIM:612356,
  • thrombophilia due to heparin cofactor II deficiency
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