Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Lynch syndrome

Synonyms

Hereditary Defective Mismatch Repair syndrome

COCA 1

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal neoplasm

hereditary non-polyposis colon cancer type 1

hereditary nonpolyposis colorectal cancer

Definitions

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. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:614331

OMIM:613244

UMLS_CUI:C0009405

NCI:C8494

OMIM:614350

NCI:C120083

OMIM:120435

SNOMEDCT_US_2016_03_01:315058005

OMIM:609310

MESH:D003123

OMIM:614337

ORDO:144

OMIM:614385

UMLS_CUI:C1333990

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.

has_alternative_id

DOID:3040

DOID:0050586

has_exact_synonym

Hereditary Defective Mismatch Repair syndrome

COCA 1

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal neoplasm

hereditary non-polyposis colon cancer type 1

hereditary nonpolyposis colorectal cancer

has_obo_namespace

disease_ontology

id

DOID:3883

in_subset

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

label

Lynch syndrome

notation

DOID:3883

prefLabel

Lynch syndrome

treeView

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

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10051981 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005835 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Non-Polyposis_Colon_Cancer CSEO LOOM
http://purl.obolibrary.org/obo/DERMO_0003425 DERMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3883 NATPRO LOOM
http://purl.jp/bio/4/id/200906009652777663 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_3883 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3883 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3883 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3883 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3883 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_3883 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3883 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3883 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3883 NIFSTD SAME_URI
http://www.orpha.net/ORDO/Orphanet_144 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_144 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_144 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_144 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_144 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_144 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 NCIT LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0003370 FASTO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0003370 DDO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0003370 DMTO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/716318002 SNOMEDCT LOOM