Disease association ontology term - MONDO:0018875 - Li-Fraumeni syndrome
Term summary
- ID
- MONDO:0018875
- Name
- Li-Fraumeni syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.
