OBO ID: DOID:7400
Term Name: Nijmegen breakage syndrome Search Ontology:
Synonyms:
  • ataxia-telangiectasia variant
  • Berlin breakage syndrome
  • immunodeficiency-microcephaly-chromosomal instability syndrome
  • Microcephaly, normal intelligence and immunodeficiency
  • microcephaly-immunodeficiency-lymphoreticuloma syndrome
  • NBS
  • Seemanova syndrome II
  • Seemanova syndrome type 2
Definition: A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. (2)
References:
Ontology: Human Disease   (DOID:7400)
OTHER Nijmegen breakage syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NBN Nijmegen breakage syndrome 251260
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None