Preferred Label : Mutation Abnormality;
NCIt synonyms : Genetic Change; Genetic Alteration; Mutated;
NCIt related terms : Mutation; Expression Consequence; Mutation, NOS; Mutation NOS;
NCIt 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. The effects of mutation range from single
base changes to loss or gain of complete chromosomes. 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.;
Alternative definition : NCI-GLOSS: 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.;
Codes from synonyms : CDR0000046063;
Origin ID : C45576;
UMLS CUI : C1705285;
Automatic exact mappings (from CISMeF team)
- mutation [Blood Transfusion thesaurus concept]
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
