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Nijmegen breakage syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009623

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. [ Orphanet:647 ]

Synonyms: AT V1 immunodeficiency-microcephaly-chromosomal instability syndrome Nijmegen breakage syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome Seemanova syndrome Berlin breakage syndrome Seemanova syndrome type 2 microcephaly, normal intelligence and immunodeficiency ataxia-telangiectasia, variant 1 NBs

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:234638009 (MONDO:equivalentTo)
  • GARD:3904 (MONDO:GARD)
  • DOID:7400 (MONDO:equivalentTo)
  • UMLS:C0398791 (MONDO:equivalentTo)
  • MedDRA:10067857 (Orphanet:647/e)
  • MEDGEN:140771 (MONDO:equivalentTo)
  • NCIT:C4692 (MONDO:equivalentTo)
  • NANDO:1200332 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:647 (OMIM:251260)
  • NANDO:2200706 (https://orcid.org/0000-0003-0011-764X)
  • MESH:D049932 (Orphanet:647/e)
  • OMIM:251260 (Orphanet:647/e)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10067857

exactMatch

https://omim.org/entry/251260

http://www.orpha.net/ORDO/Orphanet_647

http://identifiers.org/mesh/D049932

http://purl.obolibrary.org/obo/DOID_7400

http://identifiers.org/medgen/140771

http://identifiers.org/snomedct/234638009

http://linkedlifedata.com/resource/umls/id/C0398791

http://purl.obolibrary.org/obo/NCIT_C4692

has related synonym

Seemanova syndrome 2

ataxia-telangiectasia variant V1

immunodeficiency, microcephaly, and chromosomal instability

microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies

ataxia-telangiectasia variant V2

microcephaly immunodeficiency lymphoreticuloma

microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies

Nonsyndromal microcephaly autosomal recessive with normal intelligence

Nonsyndromal microcephaly, autosomal recessive, with normal intelligence

id

MONDO:0009623

seeAlso

https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome