Li-Fraumeni syndrome 1
Information
- Disease name
- Li-Fraumeni syndrome 1
- Disease ID
- DOID:0111503
- Description
- "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1978757]
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)
- MIM:151623
- Exact Synonym (Disease Ontology)
- LFS1
- MedGen concept unique identifier (MedGen Concept name)
- C1835398
- MedGen unique identifier (MedGen Concept name)
- 322656