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Preferred Name

Genomic Instability
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48189
code

C48189
DEFINITION

A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms of cell-cycle control and mutation rates within aberrant genes. Ataxia telangiectasia is a disease that is resultant from mutations in the ATM gene, which is a cell cycle checkpoint gene. Nijmegen breakage syndrome is also a disease characterized by chromosomal and genomic instability.
FULL_SYN

Genomic Instability
label

Genomic Instability
Legacy Concept Name

Genomic_Instability
Preferred_Name

Genomic Instability
prefixIRI

Thesaurus:C48189
prefLabel

Genomic Instability
Semantic_Type

Cell or Molecular Dysfunction
UMLS_CUI

C0919532
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36391
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http://purl.bioontology.org/ontology/MESH/D042822 Medical Subject Headings / 医学主题词表 LOOM