Disease association ontology term - MONDO:0031219 - mismatch repair cancer syndrome
Term summary
- ID
- MONDO:0031219
- Name
- mismatch repair cancer syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
