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Metadata
ID DOID:7400
Name Nijmegen breakage syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/3277755, https://www.ncbi.nlm.nih.gov/pubmed/9042920
Xrefs

GARD:3904

MESH:D049932

NCI:C4692

OMIM:251260

ORDO:647

SNOMEDCT_US_2020_09_01:234638009

UMLS_CUI:C0398791

Subsets

NCIthesaurus

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]

Seemanova syndrome II [EXACT]

Seemanova syndrome type 2 [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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