Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Lynch syndrome

Synonyms
Definitions

OMIM mapping confirmed by DO. [SN]. 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.

ID

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

comment

OMIM mapping confirmed by DO. [SN].

definition

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.

hasAlternativeId

DOID:0050586

DOID:3040

hasDbXref

OMIM:614331

OMIM:609310

ORDO:144

UMLS_CUI:C0009405

MESH:D003123

OMIM:614385

SNOMEDCT_US_2016_03_01:315058005

OMIM:614337

NCI:C8494

OMIM:120435

OMIM:614350

UMLS_CUI:C1333990

NCI:C120083

OMIM:613244

hasExactSynonym

hereditary nonpolyposis colorectal cancer

Hereditary Defective Mismatch Repair syndrome

HNPCC - hereditary nonpolyposis colon cancer

hereditary non-polyposis colon cancer type 1

COCA 1

hereditary nonpolyposis colorectal neoplasm

hasOBONamespace

disease_ontology

id

DOID:3883

imported from

http://purl.obolibrary.org/obo/doid.owl

inSubset

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

label

Lynch syndrome

prefixIRI

DOID:3883

prefLabel

Lynch syndrome

subClassOf

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

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