Preferred Label : Genomic Instability;
NCIt 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.;
Origin ID : C48189;
UMLS CUI : C0919532;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
