| Metadata | |
|---|---|
| ID | DOID:0111902 |
| Name | thrombophilia due to activated protein C resistance |
| Definition | A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. https://pubmed.ncbi.nlm.nih.gov/8164741/, https://pubmed.ncbi.nlm.nih.gov/8430067/, https://pubmed.ncbi.nlm.nih.gov/9454742/, https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia |
| Xrefs | |
| Synonyms |
activated protein C resistance [EXACT] APC resistance [EXACT] PCCF deficiency [EXACT] PROC cofactor deficiency [EXACT] THPH2 [EXACT] thrombophilia due to deficiency of activated protein C cofactor [EXACT] thrombophilia V [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a thrombophilia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |