ZFIN Human Disease: Nijmegen breakage syndrome

OBO ID: DOID:7400

Term Name:	Nijmegen breakage syndrome		Search Ontology:
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
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. (2)
References:	GARD:3904 MESH:D049932 NCI:C4692 OMIM:251260 ORDO:647 SNOMEDCT_US_2023_03_01:234638009 UMLS_CUI:C0398791
Ontology:	Human Disease ( DOID:7400 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Nijmegen breakage syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NBN	nbn	Nijmegen breakage syndrome	251260

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None