Homologous Recombination Deficiency

Preferred Label : Homologous Recombination Deficiency;

NCIt synonyms : HRD; HRR Deficiency; Homologous Recombination Repair Deficiency;

CISMeF acronym : HRD;

NCIt definition : A DNA repair abnormality caused by mutations in one or more genes that are involved in homologous recombination repair. Deficient homologous recombination is associated with numerous neoplastic diseases and developmental disorders related to chromosomal nondisjunction.;

Details

Origin ID

C120465;

UMLS CUI

C4049599;

Automatic exact mappings (from CISMeF team)
- tubulin folding cofactor E [ORDO Gene]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of homologous recombination deoxyribonucleic acid repair (finding) [SNOMED CT concept]
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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