Disease association ontology term - MONDO:0007356 - Lynch syndrome 1
Term summary
- ID
- MONDO:0007356
- Name
- Lynch syndrome 1
- Ontology or CV name
- Disease association
- Definition
- An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.
