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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Nijmegen breakage syndrome
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Accession:DOID:7400 term browser browse the term
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. (DO)
Synonyms:exact_synonym: At-V1;   Berlin Breakage Syndrome;   Immunodeficiency, Microcephaly, And Chromosomal Instability;   MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY;   NBS;   Seemanova syndrome;   Seemanova syndrome 2;   Seemanova syndrome II;   Seemanova syndrome type 2;   ataxia-telangiectasia variant 1;   ataxia-telangiectasia variant V1;   autosomal recessive nonsyndromal microcephaly with normal intelligence;   immunodeficiency-microcephaly-chromosomal instability syndrome;   microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies;   microcephaly-immunodeficiency-lymphoreticuloma syndrome
 narrow_synonym: AT-V2;   ATAXIA-TELANGIECTASIA VARIANT V2;   BBS;   IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME
 primary_id: MESH:D049932
 alt_id: OMIM:251260
 xref: GARD:3904;   NCI:C4692;   ORDO:647
For additional species annotation, visit the Alliance of Genome Resources.



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Nijmegen breakage syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Decr1 2,4-dienoyl-CoA reductase 1 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 5:29,411,172...29,439,054
Ensembl chr 5:29,411,172...29,439,018
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:25741868 NCBI chr 2:23,444,326...23,585,777 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2625251 PMID:3802554 PMID:9536098 PMID:9590180 PMID:9620777 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Osgin2 oxidative stress induced growth inhibitor family member 2 ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:28492532 NCBI chr 5:29,500,406...29,519,340
Ensembl chr 5:29,500,408...29,520,831
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Nijmegen breakage syndrome 4
        Microcephaly Microcornea Syndrome Seemanova Type 0
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Nijmegen breakage syndrome 4
                  Microcephaly Microcornea Syndrome Seemanova Type 0
paths to the root