Lynch syndrome

Disease Ontology Term: Lynch syndrome

DO ID: DOID:3883
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.
Synonyms: Hereditary Defective Mismatch Repair syndrome, Hereditary non-polyposis colon cancer, Hereditary nonpolyposis colon cancer, Hereditary non-polyposis colon cancer syndrome, Hereditary nonpolyposis colon cancer syndrome, hereditary nonpolyposis colorectal cancer, Hereditary non-polyposis colorectal cancer, Hereditary non-polyposis colorectal cancer syndrome, Hereditary nonpolyposis colorectal cancer syndrome, hereditary nonpolyposis colorectal neoplasm, HNPCC

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Annotations

Manually Curated 3 entries for 2 genes

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Gene	Disease Ontology Term	Evidence	Source	Assigned On	Reference
MLH1	Lynch syndrome	ISS with MLH1	SGD	2024-01-22	Clyne M, et al. (2009) PMID:19142183
MLH1	Lynch syndrome	IGI with MLH1	SGD	2024-01-22	Clyne M, et al. (2009) PMID:19142183
MSH2	Lynch syndrome	ISS with MSH2	SGD	2018-08-28	Tosti E, et al. (2014) PMID:25302077

Gene

Disease Ontology Term

Qualifier

Evidence

Source

Assigned On

Reference

MLH1

Lynch syndrome

ISS with MLH1

SGD

2024-01-22