loading...| Preferred Name |
Mutation Abnormality |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576 |
| 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 |
C45576 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178115 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174237 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177401 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174252 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174019 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173233 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177383 |
| Contributing_Source |
CTRP GDC PCDC |
| 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. |
| Display_Name |
Mutation Abnormality |
| FULL_SYN |
Mutation NOS Genetic Alteration Mutation, NOS Mutated Mutation Expression Consequence Genetic Change mutation Mutation Abnormality |
| 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 |
| Legacy Concept Name |
Mutation_Abnormality |
| Maps_To |
Mutation, NOS |
| Preferred_Name |
Mutation Abnormality |
| prefixIRI |
Thesaurus:C45576 |
| prefLabel |
Mutation Abnormality |
| Semantic_Type |
Cell or Molecular Dysfunction |
| UMLS_CUI |
C1705285 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||