Term Name: | heparin cofactor II deficiency |
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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. |
Ontology: | Human Disease [DOID:0111901] ( DOID:0111901 ) |