Disease association ontology term - MONDO:0030841 - mismatch repair cancer syndrome 3
Term summary
- ID
- MONDO:0030841
- Name
- mismatch repair cancer syndrome 3
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal
