Summary Literature (0)

DOID:3883 - Lynch syndrome

Disease Ontology Definition:A syndrome 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, Hereditary non-polyposis colon cancer syndrome, Hereditary non-polyposis colorectal cancer, Hereditary non-polyposis colorectal cancer syndrome, Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer syndrome, Hereditary nonpolyposis colorectal cancer syndrome, hereditary non-polyposis colon cancer type 1, hereditary nonpolyposis colorectal cancer, hereditary nonpolyposis colorectal neoplasm,

Echinobase Genes : pms1, mlh1, msh2


OMIM:

MIM:120435 - lynch syndrome i

MIM:609310 - colorectal cancer, hereditary nonpolyposis, type 2; hnpcc2

MIM: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