thrombophilia due to activated protein C resistance
Information
- Disease name
- thrombophilia due to activated protein C resistance
- Disease ID
- DOID:0111902
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia, url:https\://pubmed.ncbi.nlm.nih.gov/8164741/, url:https\://pubmed.ncbi.nlm.nih.gov/8430067/, url:https\://pubmed.ncbi.nlm.nih.gov/9454742/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2452
- Cross Reference ID (Disease Ontology)
- MESH:C566056
- Cross Reference ID (Disease Ontology)
- MIM:188055
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1861171
- Exact Synonym (Disease Ontology)
- activated protein C resistance
- Exact Synonym (Disease Ontology)
- APC resistance
- Exact Synonym (Disease Ontology)
- PCCF deficiency
- Exact Synonym (Disease Ontology)
- PROC cofactor deficiency
- Exact Synonym (Disease Ontology)
- THPH2
- Exact Synonym (Disease Ontology)
- thrombophilia due to deficiency of activated protein C cofactor
- Exact Synonym (Disease Ontology)
- thrombophilia V