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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: MIM: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 Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies ClinVar PMID:18414213 PMID:18628313 PMID:19894250 PMID:21228398 PMID:25326635 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:18414213 PMID:25677497 PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency ClinVar PMID:14517956 PMID:16602010 PMID:17204055 PMID:19790256 PMID:20337973 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Nbn nibrin ISO
ISS		 ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 | ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies | ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency | ClinVar Annotator: match by term: Seemanova syndrome 2
OMIM:251260
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2625251 PMID:2952226 PMID:3802554 PMID:9523210 PMID:9536098 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
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      Nijmegen breakage syndrome 7
        Microcephaly Microcornea Syndrome Seemanova Type 0
Path 2
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        genetic disease 13203
          monogenic disease 10702
            autosomal genetic disease 9875
              autosomal recessive disease 6896
                Nijmegen breakage syndrome 7
                  Microcephaly Microcornea Syndrome Seemanova Type 0
paths to the root