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About: Nijmegen breakage syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • Nijmegen breakage syndrome
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:7400
database_cross_reference
  • GARD:3904
  • MESH:D049932
  • NCI:C4692
  • OMIM:251260
  • ORDO:647
  • SNOMEDCT_US_2021_09_01:234638009
  • UMLS_CUI:C0398791
has_exact_synonym
  • microcephaly-immunodeficiency-lymphoreticuloma syndrome (en)
  • Berlin breakage syndrome (en)
  • immunodeficiency-microcephaly-chromosomal instability syndrome (en)
  • NBS (en)
  • Seemanova syndrome II (en)
  • Seemanova syndrome type 2 (en)
  • ataxia-telangiectasia variant (en)
  • Microcephaly, normal intelligence and immunodeficiency (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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