| Metadata | |
|---|---|
| ID | DOID:0111901 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/2647747/, https://pubmed.ncbi.nlm.nih.gov/8562924/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:234468009 |
| Synonyms |
HCF 2 deficiency [EXACT] HCF II deficiency [EXACT] THPH10 [EXACT] thrombophilia due to heparin cofactor II deficiency [EXACT] |
| Parent Relationships |
is_a thrombophilia |