Disease association ontology term - MONDO:0030840 - mismatch repair cancer syndrome 2
Term summary
- ID
- MONDO:0030840
- Name
- mismatch repair cancer syndrome 2
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer.
