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ONTOLOGY REPORT - ANNOTATIONS


Term:Cerebrooculofacioskeletal Syndrome
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Accession:DOID:9007995 term browser browse the term
Synonyms:exact_synonym: CEREBRO-OCULO-FACIO-SKELETAL SYNDROME;   COFS;   COFS syndrome
 primary_id: RDO:9005212
 xref: OMIM:PS214150
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
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:11554173
RGD:10401101
RGD:10401092
Cerebrooculofacioskeletal Syndrome 2 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:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
G Polr1g RNA polymerase I subunit G JBrowse link 1 80,267,725 80,271,001 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Cockayne syndrome 12
        Cerebrooculofacioskeletal Syndrome 5
          Cerebrooculofacioskeletal Syndrome 1 2
          Cerebrooculofacioskeletal Syndrome 2 1
          Cerebrooculofacioskeletal Syndrome 3 1
          Cerebrooculofacioskeletal Syndrome 4 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
                  Cerebrooculofacioskeletal Syndrome 5
                    Cerebrooculofacioskeletal Syndrome 1 2
                    Cerebrooculofacioskeletal Syndrome 2 1
                    Cerebrooculofacioskeletal Syndrome 3 1
                    Cerebrooculofacioskeletal Syndrome 4 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.