Nijmegen breakage syndrome Disease Ontology Browser

Disease Ontology Browser

Nijmegen breakage syndrome (DOID:7400)
Alliance: disease page
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
Alt IDs: OMIM:251260, MESH:D049932, NCI:C4692, ORDO:647, UMLS_CUI:C0398791
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.

Disease References using Mouse Models (5)

Allelic Composition	Genetic Background	Reference	Phenotypes
\Nbntm1Xu/\Nbntm1Xu	Not Specified	J:75272	View
\Nbntm1Zqw/\Nbntm1Zqw	involves: 129S2/SvPas * C57BL/6	J:86563	View
\Nbntm1.1Md/\Nbntm1.1Md	involves: 129/Sv * 129P2/OlaHsd	J:93598	View
\Nbntm1Jpt/\Nbntm1Jpt	involves: 129S7/SvEvBrd	J:75956	View
\Nbntm1Zqw/\Nbn+	involves: 129S2/SvPas * C57BL/6	J:86563	View
\Nbntm1Nus/\Nbntm2Nus \Tg(CD19-cre/ERT2)1Cgn/0	Not Specified	J:96102	View
\Nbntm1Md/\Nbntm1Zqw \Tg(Mx1-cre)1Cgn/0	involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA	J:93598	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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