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DOID:7400 - Nijmegen breakage syndrome
Disease 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.
Synonyms: Berlin breakage syndrome, Microcephaly, normal intelligence and immunodeficiency, Microcephaly, normal intelligence and immunodeficiency (disorder), NBS, Seemanova syndrome, Seemanova syndrome II, Seemanova syndrome type 2, ataxia-telangiectasia variant, immunodeficiency-microcephaly-chromosomal instability syndrome, microcephaly-immunodeficiency-lymphoreticuloma syndrome,
Xenbase Genes
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nbn
| MONDO:0009623 - Nijmegen breakage syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)