Disease association ontology term - MONDO:0030843 - mismatch repair cancer syndrome 4
Term summary
- ID
- MONDO:0030843
- Name
- mismatch repair cancer syndrome 4
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
