FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term heparin cofactor II deficiency ID (Ontology) DOID:0111901 (Human Disease)
Definition A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.
Also Known As "HCF 2 deficiency" ; "HCF II deficiency" ; "THPH10" (for all, see Synonyms field below)
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 Genes
 heparin cofactor II deficiency      21
 for disease ribbon | heparin cofactor II deficiency      21
 model of | heparin cofactor II deficiency      21
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__thrombophilia_______________|
                                heparin cofactor II deficiency  21 rec.
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Is a autosomal dominant disease
thrombophilia
Part of
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Synonyms
  • "HCF 2 deficiency" EXACT
    "HCF II deficiency" EXACT
    "THPH10" EXACT OMO:0003012
    "thrombophilia due to heparin cofactor II deficiency" EXACT
Secondary IDs
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MESH:C562865
MIM:612356
SNOMEDCT_US_2023_03_01:234468009
UMLS_CUI:C0398626