Terminology Service for NFDI4Health
Mutation Abnormality
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http://purl.obolibrary.org/obo/NCIT_C45576
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. [ ]
Term info
Label
Mutation Abnormality
Synonyms
- Genetic Alteration
- Genetic Change
- Mutated
- Mutation
- Mutation Abnormality
- mutation
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
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.
Contributing Source
CTRP
Display Name
Mutation Abnormality
Legacy Concept Name
Mutation_Abnormality
Preferred Name
Mutation Abnormality
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C1705285
code
C45576