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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
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Pathological Conditions, Signs and Symptoms 8019
      Pathologic Processes 5164
        Growth Disorders 295
          Nijmegen Breakage Syndrome-Like Disorder 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      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.