Li-Fraumeni syndrome 2
Information
- Disease name
- Li-Fraumeni syndrome 2
- Disease ID
- DOID:0111504
- Description
- "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479205]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3012
- Cross Reference ID (Disease Ontology)
- MESH:C563755
- Cross Reference ID (Disease Ontology)
- MIM:609265
- Exact Synonym (Disease Ontology)
- LFS2
- MedGen concept unique identifier (MedGen Concept name)
- C1836482
- MedGen unique identifier (MedGen Concept name)
- 322930