thrombophilia due to thrombin defect
Information
- Disease name
- thrombophilia due to thrombin defect
- Disease ID
- DOID:0111907
- Description
- "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2." [url:https\://pubmed.ncbi.nlm.nih.gov/11570053/, url:https\://pubmed.ncbi.nlm.nih.gov/22716977/]
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)
- GARD:10815
- Cross Reference ID (Disease Ontology)
- MIM:188050
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3160733
- Exact Synonym (Disease Ontology)
- prothrombin-related thrombophilia
- Exact Synonym (Disease Ontology)
- THPH1
- Exact Synonym (Disease Ontology)
- thrombophilia due to factor 2 defect