National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Mutation

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885

Obsolete

true

ALT_DEFINITION

Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases.

code

C16885

Concept_Status

Retired_Concept

DEFINITION

Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.

deprecated

true

DesignNote

Wed Jun 16 11:17:20 EDT 2010 - See 'Mutation_Abnormality'

FULL_SYN

Mutated

Genetic Alteration

Genetic Change

label

Mutation

Legacy_Concept_Name

Mutation

Preferred_Name

Mutation

prefixIRI

C16885

prefLabel

Mutation

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C0026882

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95421

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http://purl.obolibrary.org/obo/MI_0118 Molecular Interactions Controlled Vocabulary LOOM
http://purl.bioontology.org/ontology/LNC/LP32514-9 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D009154 Medical Subject Headings LOOM