OBO ID: DOID:7400 |
Term Name: | Nijmegen breakage syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:7400 ) |
OTHER Nijmegen breakage syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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