BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Lynch syndrome

Synonyms

hereditary nonpolyposis colorectal neoplasm

COCA 1

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

SNOMEDCT_US_2020_03_01:315058005

UMLS_CUI:C0009405

UMLS_CUI:C1333990

OMIM:PS120435

MESH:D003123

NCI:C120083

GARD:9905

ORDO:144

has exact synonym

hereditary nonpolyposis colorectal neoplasm

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal cancer

Hereditary Defective Mismatch Repair syndrome

COCA 1

has_alternative_id

DOID:0050586

DOID:3040

has_obo_namespace

disease_ontology

id

DOID:3883

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Lynch syndrome

notation

DOID:3883

prefLabel

Lynch syndrome

textual 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.

subClassOf

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

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

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
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Justification (optional)
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