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Items: 10

1.

Abnormality of chromosome stability

A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. [from HPO]

MedGen UID:
91280
Concept ID:
C0376628
Cell or Molecular Dysfunction
2.

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
3.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
4.

Chromosome breakage

MedGen UID:
868103
Concept ID:
C4022494
5.

Nijmegen breakage syndrome-like disorder

MedGen UID:
442700
Concept ID:
C2751318
Disease or Syndrome
6.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
7.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
8.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
9.

RAD50 Gene Mutation

A change in the nucleotide sequence of the RAD50 gene. [from NCI]

MedGen UID:
1388095
Concept ID:
C4331198
Cell or Molecular Dysfunction
10.

MRE11 Gene Mutation

A change in the nucleotide sequence of the MRE11 gene. [from NCI]

MedGen UID:
1379942
Concept ID:
C4330604
Cell or Molecular Dysfunction
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