Mondo Disease Ontology

Last uploaded: March 4, 2024
Preferred Name

Lynch syndrome

Synonyms

hereditary defective mismatch repair syndrome

Hereditary colorectal endometrial cancer syndrome

Lynch syndrome

familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

hereditary non-polyposis colon cancer type 1

Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

hereditary nonpolyposis colorectal cancer

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal neoplasm

Definitions

Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. 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.

ID

http://purl.obolibrary.org/obo/MONDO_0005835

comment

Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria.

closeMatch

http://identifiers.org/meddra/10051981

database_cross_reference

MedDRA:10051981

Orphanet:144

EFO:0007354

UMLS:C0009405

DOID:3883

NCIT:C8494

GARD:9905

SCTID:716318002

NORD:1386

definition

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C8494

http://identifiers.org/snomedct/716318002

http://purl.obolibrary.org/obo/DOID_3883

http://purl.obolibrary.org/obo/Orphanet_144

has_broad_synonym

hereditary nonpolyposis colorectal cancer

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal neoplasm

has_exact_synonym

hereditary defective mismatch repair syndrome

Hereditary colorectal endometrial cancer syndrome

Lynch syndrome

familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

hereditary non-polyposis colon cancer type 1

Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/1673

id

MONDO:0005835

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#clingen

http://purl.obolibrary.org/obo/mondo#gard_rare

label

Lynch syndrome

notation

MONDO:0005835

prefLabel

Lynch syndrome

relatedMatch

http://linkedlifedata.com/resource/umls/id/C0009405

seeAlso

https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc

https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria

treeView

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0018630

subClassOf

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0018630

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