Search Ontology:
Human Disease

Nijmegen breakage syndrome

Term ID
DOID:7400
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
(all 8)
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
(all 7)
Ontology
Human Disease   ( DOID:7400 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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