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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, hereditary non-polyposis colon cancer type 1, HNPCC - hereditary nonpolyposis colon cancer, Hereditary Defective Mismatch Repair syndrome, hereditary nonpolyposis colorectal cancer, hereditary nonpolyposis colorectal neoplasm, 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, HNPCC
Echinobase Genes
:
pms1,
mlh1,
msh2
| 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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)