Disease association ontology term - MONDO:0013699 - Lynch syndrome 4
Term summary
- ID
- MONDO:0013699
- Name
- Lynch syndrome 4
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.
