Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Lynch syndrome

Synonyms

Hereditary non-polyposis colorectal cancer

Definitions

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. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C120083

UMLS_CUI:C0009405

SNOMEDCT_US_2022_09_01:700064004

UMLS_CUI:C1333990

OMIM:PS120435

ORDO:144

GARD:9905

MESH:D003123

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 non-polyposis colorectal cancer

COCA 1

Hereditary Defective Mismatch Repair syndrome

Hereditary non-polyposis colorectal cancer syndrome

Hereditary non-polyposis colon cancer syndrome

HNPCC - hereditary nonpolyposis colon cancer

Hereditary nonpolyposis colorectal cancer syndrome

Hereditary non-polyposis colon cancer

Hereditary nonpolyposis colon cancer

Hereditary nonpolyposis colon cancer syndrome

hereditary nonpolyposis colorectal neoplasm

hereditary nonpolyposis colorectal cancer

has material basis in

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

has_alternative_id

DOID:3040

DOID:0050586

has_obo_namespace

disease_ontology

id

DOID:3883

in_subset

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

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

label

Lynch syndrome

notation

DOID:3883

prefLabel

Lynch syndrome

subClassOf

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

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0005835 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_3883 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_3883 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_144 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM