Nijmegen Breakage Syndrome-Like Disorder

Preferred Label : Nijmegen Breakage Syndrome-Like Disorder;

NCIt synonyms : NBSLD; RAD50 Deficiency;

NCIt definition : A condition caused by mutation(s) in the RAD50 gene, encoding DNA repair protein RAD50. It is characterized by microcephaly and chromosomal instability.;

Details

Origin ID

C153178;

UMLS CUI

C2751318;

Currated CISMeF NLP mapping
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder [ICD-11 More detail]
- Nijmegen breakage syndrome-like disorder [OMIM Phenotype]
- Nijmegen breakage syndrome-like disorder (disorder) [SNOMED CT concept]
- nijmegen breakage Syndrome-Like disorder [MeSH concept]
- nijmegen breakage Syndrome-Like disorder [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nijmegen breakage syndrome-like disorder [ICD-11 More detail]
- Nijmegen breakage syndrome-like disorder [OMIM Phenotype]
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder (disorder) [SNOMED CT concept]
- nijmegen breakage Syndrome-Like disorder [MeSH concept]
- nijmegen breakage Syndrome-Like disorder [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RAD50 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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