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ONTOLOGY REPORT - ANNOTATIONS


Term:Cockayne Syndrome A
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Accession:DOID:9007866 term browser browse the term
Synonyms:exact_synonym: CSA;   Cockayne syndrome type A;   Cockayne syndrome, classical;   Type I Cockayne Syndrome;   group A Cockayne syndrome
 primary_id: OMIM:216400
 xref: NCI:C135725
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Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:10401106
RGD:8554872
RGD:7240710
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Cockayne syndrome 12
        Cockayne Syndrome A 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              Dwarfism 470
                Cockayne syndrome 12
                  Cockayne Syndrome A 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.