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ONTOLOGY REPORT - ANNOTATIONS


Term:Cerebrooculofacioskeletal Syndrome 1
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Accession:DOID:9003294 term browser browse the term
Synonyms:exact_synonym: COFS1;   Pena-Shokeir Syndrome, Type II
 primary_id: MESH:C562434
 alt_id: OMIM:214150;   RDO:0012161
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Cerebrooculofacioskeletal Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401092
RGD:10401101

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Cockayne syndrome 11
        Cerebrooculofacioskeletal Syndrome 4
          Cerebrooculofacioskeletal Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                Cockayne syndrome 11
                  Cerebrooculofacioskeletal Syndrome 4
                    Cerebrooculofacioskeletal Syndrome 1 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.