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Summary Literature (0)
DOID:3883 - Lynch syndrome

Disease Ontology Definition: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.

Synonyms: COCA 1, HNPCC - hereditary nonpolyposis colon cancer, Hereditary Defective Mismatch Repair syndrome, hereditary non-polyposis colon cancer type 1, hereditary nonpolyposis colorectal cancer, hereditary nonpolyposis colorectal neoplasm

Echinobase Genes : pms1, mlh1, msh2

OMIM:120435 - lynch syndrome i
OMIM:609310 - colorectal cancer, hereditary nonpolyposis, type 2; hnpcc2
OMIM:613244 - colorectal cancer, hereditary nonpolyposis, type 8; hnpcc8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)