Nijmegen breakage syndrome-like disorder

Preferred Label : Nijmegen breakage syndrome-like disorder;

Symbol : NBSLD;

CISMeF acronym : NBSLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nbs-like disorder; Microcephaly and spontaneous chromosome instability without immunodeficiency; Rad50 deficiency;

Prefixed ID : #613078;

Details

Origin ID

613078;

UMLS CUI

C2751318;

Automatic exact mappings (from CISMeF team)
- RAD50 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Nijmegen Breakage Syndrome-Like Disorder [NCIt concept]
- Nijmegen breakage syndrome-like disorder [ICD-11 More detail]
- 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]
Genes related to phenotype
- Rad50 double-strand break repair protein [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bird-like facies [HPO term]
- Chromosomal breakage induced by ionizing radiation [HPO term]
- Growth delay [HPO term]
- Hypermetropia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
Not associated HPO term(s)
- Decreased circulating antibody level [HPO term]
ORDO concept(s)
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nijmegen Breakage Syndrome-Like Disorder [NCIt concept]
- Nijmegen breakage syndrome-like disorder [ORDO Disease]
- Nijmegen breakage syndrome-like disorder [ICD-11 More detail]
- Nijmegen breakage syndrome-like disorder (disorder) [SNOMED CT concept]
- nijmegen breakage Syndrome-Like disorder [MeSH Supplementary Concept]
- nijmegen breakage Syndrome-Like disorder [MeSH concept]

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