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National Cancer Institute Thesaurus
| Preferred Name | Mutation Abnormality | |
| Synonyms |
Mutation NOS Mutation, NOS Mutation Abnormality Genetic Change Expression Consequence Genetic Alteration Mutated Mutation mutation |
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| Definitions |
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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
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| 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.
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| code |
C45576
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174252 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178125 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174237 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178115 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173233 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174019 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177383 |
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| Contributing_Source |
CTRP GDC PCDC
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|
| 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.
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|
| Display_Name |
Mutation Abnormality
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|
| FULL_SYN |
Mutation NOS Mutation, NOS Mutation Abnormality Genetic Change Expression Consequence Genetic Alteration Mutated Mutation mutation
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| Is_PCDC_ALL_Authorized_Value_For_Variable | ||
| Is_PCDC_AML_Authorized_Value_For_Variable | ||
| Is_PCDC_EWS_Authorized_Value_For_Variable | ||
| Is_PCDC_GCT_Authorized_Value_For_Variable | ||
| Is_Value_For_GDC_Property | ||
| label |
Mutation Abnormality
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|
| Legacy Concept Name |
Mutation_Abnormality
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|
| Maps_To |
Mutation, NOS
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| Preferred_Name |
Mutation Abnormality
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| prefixIRI |
Thesaurus:C45576
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|
| Semantic_Type |
Cell or Molecular Dysfunction
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|
| UMLS_CUI |
C1705285
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| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://doe-generated-ontology.com/OntoAD#C1705285 | ONTOAD | LOOM |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mutation_Abnormality | BDO | LOOM |
| http://purl.obolibrary.org/obo/NCIT_C45576 | BERO | LOOM |