DNA Damage Response Deficiency

Preferred Label : DNA Damage Response Deficiency;

NCIt synonyms : DDRD; DNA Damage Repair Deficiency; DNA Damage Response and Repair Deficiency; Deficient DNA Damage Response;

NCIt definition : A decrease in the ability of cells to respond to damaged DNA and to repair the damage. This DNA repair deficiency can be caused by mutations in the genes involved in the DNA damage response and/or DNA repair.;

Details

Origin ID

C123152;

UMLS CUI

C4050123;

False automatic mappings
- Dyssegmental dysplasia, rolland-desbuquois type [OMIM Phenotype]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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