ONTOLOGY REPORT - ANNOTATIONS


Term:Nicolaides Baraitser Syndrome
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Accession:DOID:9003531 term browser browse the term
Synonyms:exact_synonym: NBS;   NCBRS;   Sparse hair and mental retardation
 primary_id: MESH:C536116;   RDO:0001558
 alt_id: OMIM:601358
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Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Nicolaides Baraitser Syndrome 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Nicolaides Baraitser Syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.