Experimental Factor Ontology - Nijmegen breakage syndrome - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: February 17, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0009623 http://purl.obolibrary.org/obo/MONDO_0009623
Preferred Name	Nijmegen breakage syndrome
Definitions	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Synonyms	Nonsyndromal microcephaly, autosomal recessive, with normal intelligence immunodeficiency, microcephaly, and chromosomal instability microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Seemanova syndrome 2 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma ataxia-telangiectasia variant V1 microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 Nijmegen breakage syndrome Berlin breakage syndrome Seemanova syndrome microcephaly, normal intelligence and immunodeficiency AT V1 NBS NBs See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
preferred label	Nijmegen breakage syndrome
label	Nijmegen breakage syndrome
prefLabel	Nijmegen breakage syndrome
exactMatch	http://linkedlifedata.com/resource/umls/id/C0398791 http://identifiers.org/snomedct/234638009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1925662580 http://purl.obolibrary.org/obo/DOID_7400 http://identifiers.org/medgen/140771 http://www.orpha.net/ORDO/Orphanet_647 http://identifiers.org/mesh/D049932 https://omim.org/entry/251260 http://purl.obolibrary.org/obo/NCIT_C4692 See more See less
database_cross_reference	MedDRA:10067857 icd11.foundation:1925662580 NANDO:1200332 NANDO:2200706 OMIM:251260 Orphanet:647 MEDGEN:140771 SCTID:234638009 UMLS:C0398791 MESH:D049932 DOID:7400 GARD:3904 NCIT:C4692 See more See less
notation	MONDO:0009623
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome See more See less
has_related_synonym	Nonsyndromal microcephaly, autosomal recessive, with normal intelligence immunodeficiency, microcephaly, and chromosomal instability microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Seemanova syndrome 2 microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ataxia-telangiectasia variant V2 Nonsyndromal microcephaly autosomal recessive with normal intelligence microcephaly immunodeficiency lymphoreticuloma ataxia-telangiectasia variant V1 See more See less
id	MONDO:0009623
see also	https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome
subClassOf	http://www.ebi.ac.uk/efo/EFO_0008499 http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/MONDO_0015327 http://www.ebi.ac.uk/efo/EFO_1000017
closeMatch	http://identifiers.org/meddra/10067857
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	microcephaly-immunodeficiency-lymphoreticuloma syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 Nijmegen breakage syndrome Berlin breakage syndrome Seemanova syndrome microcephaly, normal intelligence and immunodeficiency AT V1 NBS NBs See more See less
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0009623

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