heparin cofactor II deficiency (DOID:0111901)
Alliance: disease page
Synonyms: HCF 2 deficiency; HCF II deficiency; THPH10; thrombophilia due to heparin cofactor II deficiency
Alt IDs: OMIM:612356, MESH:C562865, UMLS_CUI:C0398626
Definition: A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.