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heparin cofactor II deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease thrombophilia
External Links
- Disease Ontology
- DOID:0111901
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
Related Genes
