Search Ontology:
Human Disease
heparin cofactor II deficiency
- Term ID
- DOID:0111901
- Synonyms
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- 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. (2)
- References
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- MESH:C562865
- MIM:612356
- SNOMEDCT_US_2023_03_01:234468009
- UMLS_CUI:C0398626
- Ontology
- Human Disease ( DOID:0111901 )
- is a type of
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Genes Involved
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