Preferred Name

Lynch syndrome

Synonyms

Hereditary nonpolyposis colon cancer

Hereditary non-polyposis colorectal cancer

Definitions

OMIM mapping confirmed by DO. [SN]. 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.

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0009405

UMLS_CUI:C1333990

OMIM:PS120435

MESH:D003123

NCI:C120083

SNOMEDCT_US_2023_03_01:700064004

GARD:9905

ORDO:144

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.

has exact synonym

Hereditary nonpolyposis colon cancer

Hereditary non-polyposis colon cancer syndrome

hereditary nonpolyposis colorectal neoplasm

Hereditary non-polyposis colorectal cancer syndrome

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal cancer

Hereditary non-polyposis colon cancer

Hereditary nonpolyposis colon cancer syndrome

Hereditary nonpolyposis colorectal cancer syndrome

Hereditary Defective Mismatch Repair syndrome

COCA 1

Hereditary non-polyposis colorectal cancer

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_alternative_id

DOID:0050586

DOID:3040

has_obo_namespace

disease_ontology

id

DOID:3883

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Lynch syndrome

notation

DOID:3883

prefLabel

Lynch syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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