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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, 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,
Xenbase Genes
:
pms1,
msh2,
msh6,
epcam,
pms2,
fan1,
mlh1
| MONDO:0005835 - Lynch syndrome |
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),
syndrome (is_a)