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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 chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
Synonyms:exact_synonym: At-V1;   Ataxia Telangiectasia Variant V1;   Berlin Breakage Syndrome;   Immunodeficiency, Microcephaly, And Chromosomal Instability;   MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY;   Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies;   NBS;   Seemanova syndrome;   Seemanova syndrome 2;   Seemanova syndrome II;   Seemanova syndrome type 2;   ataxia telangiectasia variant 1;   autosomal recessive nonsyndromal microcephaly with normal intelligence;   immunodeficiency-microcephaly-chromosomal instability syndrome;   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 5:29,573,893...29,601,731
Ensembl chr 5:29,573,898...29,601,748
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by OMIM:251260
ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nijmegen breakage syndrome
ClinVar Annotator: match by term: SEEMANOVA SYNDROME II
ClinVar
OMIM
CTD
PMID:2625251, PMID:3802554, PMID:9590180, PMID:9620777, PMID:10398434, PMID:10792024, PMID:10799436, PMID:10839544, PMID:10852373, PMID:11062235, PMID:11093281, PMID:11279524, PMID:11325820, PMID:11953735, PMID:12123493, PMID:12353271, PMID:12376507, PMID:12419185, PMID:12427538, PMID:12433983, PMID:12447395, PMID:12505263, PMID:12621246, PMID:12679336, PMID:12833396, PMID:12861053, PMID:14559852, PMID:14684699, PMID:14973119, PMID:15048089, PMID:15185344, PMID:15279770, PMID:15338273, PMID:15451479, PMID:15474156, PMID:15593232, PMID:15758953, PMID:15964794, PMID:16033915, PMID:16152606, PMID:16415040, PMID:16474176, PMID:16521404, PMID:16544999, PMID:16702373, PMID:16770759, PMID:16810201, PMID:16998789, PMID:17103455, PMID:17384674, PMID:17395558, PMID:17429352, PMID:17496786, PMID:17695489, PMID:17894553, PMID:17899368, PMID:17957789, PMID:18049891, PMID:18056440, PMID:18073374, PMID:18186968, PMID:18280732, PMID:18281469, PMID:18328813, PMID:18593981, PMID:18606567, PMID:18638378, PMID:18940477, PMID:19105185, PMID:19393249, PMID:19409520, PMID:19452044, PMID:19523210, PMID:19584272, PMID:19629396, PMID:19635536, PMID:19804755, PMID:19804756, PMID:19813148, PMID:19908051, PMID:20444919, PMID:20805886, PMID:20981092, PMID:21035407, PMID:21212067, PMID:21302341, PMID:21346221, PMID:21520333, PMID:21664921, PMID:21698754, PMID:22006311, PMID:22131123, PMID:22293976, PMID:22373003, PMID:22491912, PMID:22864661, PMID:22941933, PMID:22995991, PMID:23149842, PMID:23265383, PMID:23317186, PMID:23458873, PMID:23525077, PMID:23555315, PMID:23765759, PMID:24033266, PMID:24093751, PMID:24113799, PMID:24349281, PMID:24396275, PMID:24549055, PMID:24556621, PMID:24728327, PMID:24733792, PMID:24763289, PMID:24830725, PMID:24894818, PMID:24928521, PMID:25117502, PMID:25186627, PMID:25239263, PMID:25318351, PMID:25326637, PMID:25485873, PMID:25503501, PMID:25619955, PMID:25637381, PMID:25677497, PMID:25712764, PMID:25741868, PMID:25980754, PMID:26083025, PMID:26092435, PMID:26315354, PMID:26467025, PMID:26512707, PMID:26534844, PMID:26564480, PMID:26580448, PMID:26659599, PMID:26681312, PMID:26722329, PMID:26786923, PMID:26787654, PMID:26822949, PMID:26845104, PMID:26898890, PMID:26929905, PMID:26934577, PMID:26976419, PMID:27028851, PMID:27060854, PMID:27148588, PMID:27150568, PMID:27153395, PMID:27433846, PMID:27443514, PMID:27498913, PMID:27616075, PMID:27621404, PMID:27760322, PMID:27878467, PMID:27978560, PMID:28076792, PMID:28135145, PMID:28152038, PMID:28202063, PMID:28261280, PMID:28374160, PMID:28492532, PMID:28528518, PMID:28717660, PMID:28727877, PMID:28796236, PMID:28873162, PMID:28888541, PMID:28975465, PMID:29093764, PMID:29173497, PMID:29300386, PMID:29335925, PMID:29368341, PMID:29371908, PMID:29458332, PMID:29470806, PMID:29484706, PMID:29506128, PMID:29522266, PMID:29596542, PMID:29615459, PMID:29641532, PMID:29929473, PMID:30287823, PMID:30306255, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30441849, PMID:30564542, PMID:30651582, PMID:30942098, PMID:30995915, PMID:31159747, PMID:31273614, PMID:31278556, PMID:32566746 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
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:10792024, PMID:15048089, PMID:15758953, PMID:15964794, PMID:21035407, PMID:22864661, PMID:24894818, PMID:25741868, PMID:26315354, PMID:26467025, PMID:26681312, PMID:28492532 NCBI chr 5:29,663,131...29,683,634
Ensembl chr 5:29,663,685...29,682,005
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Nijmegen breakage syndrome 3
        Microcephaly Microcornea Syndrome Seemanova Type 0
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                Nijmegen breakage syndrome 3
                  Microcephaly Microcornea Syndrome Seemanova Type 0
paths to the root

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