|OBO ID: DOID:7400|
|Term Name:||Nijmegen breakage syndrome||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:7400)|
|is a type of:||
OTHER Nijmegen breakage syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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