autosomal dominant disease Lynch syndrome https://github.com/monarch-initiative/mondo/issues/1673 https://github.com/monarch-initiative/mondo/issues/9178 https://www.malacards.org/card/lynch_syndrome https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc SCTID:716318002 MEDGEN:1633554 MONDO:0005835 An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. hereditary defective mismatch repair syndrome https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria Hereditary colorectal endometrial cancer syndrome NCIT:C8494 Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) DOID:3883 familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Orphanet:144 MedDRA:10051981 Lynch syndrome UMLS:C4552100 NORD:1386 hereditary nonpolyposis colon cancer obsolete_Lynch syndrome