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ONTOLOGY REPORT - ANNOTATIONS


Term:Nijmegen Breakage Syndrome-Like Disorder
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Accession:DOID:9008829 term browser browse the term
Synonyms:exact_synonym: Microcephaly and Spontaneous Chromosome Instability without Immunodeficiency;   NBS-LIKE DISORDER;   NBSLD;   RAD50 Deficiency
 primary_id: MESH:C567767;   RDO:0015738
 alt_id: OMIM:613078
For additional species annotation, visit the Alliance of Genome Resources.


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Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4927
        Growth Disorders 244
          Nijmegen Breakage Syndrome-Like Disorder 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            complex cortical dysplasia with other brain malformations 405
              Malformations of Cortical Development, Group I 266
                microcephaly 203
                  Nijmegen Breakage Syndrome-Like Disorder 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.