# Li-Fraumeni syndrome

> autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata

**Wikidata**: [Q187542](https://www.wikidata.org/wiki/Q187542)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Li–Fraumeni_syndrome)  
**Source**: https://4ort.xyz/entity/li-fraumeni-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. BBC Things
5. Klinická neurologie část speciální
6. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition
7. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/10083)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141510/MONDO_0018875)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)