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Lynch syndrome

Disease Summary
Associated Targets (24)
Tbio

17

Tchem

4

Tclin

3


Mondo Description An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
Disease Ontology Description An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
Mondo Term and Equivalent IDs
MONDO:0005835:  Lynch syndrome
EFO:0007354: 
NCIT:C8494: 
Orphanet:144: 
SCTID:716318002: