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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24