FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Nijmegen breakage syndrome ID (Ontology) DOID:7400 (Human Disease)
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.
Also Known As "ataxia-telangiectasia variant" ; "Berlin breakage syndrome" ; "immunodeficiency-microcephaly-chromosomal instability syndrome" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Nijmegen breakage syndrome       1      1
 for disease ribbon | Nijmegen breakage syndrome       1       --
 model of | Nijmegen breakage syndrome       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Nijmegen breakage syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "ataxia-telangiectasia variant" EXACT
    "Berlin breakage syndrome" EXACT
    "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT
    "Microcephaly, normal intelligence and immunodeficiency" EXACT
    "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT
    "NBS" EXACT OMO:0003012
    "Seemanova syndrome II" EXACT
    "Seemanova syndrome type 2" EXACT
Secondary IDs
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GARD:3904
MESH:D049932
MIM:251260
NCI:C4692
ORDO:647
SNOMEDCT_US_2023_03_01:234638009
UMLS_CUI:C0398791