Disease association ontology term - MONDO:0012249 - Lynch syndrome 2
Term summary
- ID
- MONDO:0012249
- Name
- Lynch syndrome 2
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 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, often occurring at younger ages.
