ONTOLOGY REPORT - ANNOTATIONS


Term:Cerebrooculofacioskeletal Syndrome
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Accession:DOID:9007995 term browser browse the term
Synonyms:exact_synonym: COFS;   COFS syndrome
 primary_id: RDO:9005212
 xref: OMIM:PS214150
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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: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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Cockayne syndrome 11
        Cerebrooculofacioskeletal Syndrome 4
          Cerebrooculofacioskeletal Syndrome 1 2
          Cerebrooculofacioskeletal Syndrome 2 1
          Cerebrooculofacioskeletal Syndrome 3 1
          Cerebrooculofacioskeletal Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Dwarfism 300
                Cockayne syndrome 11
                  Cerebrooculofacioskeletal Syndrome 4
                    Cerebrooculofacioskeletal Syndrome 1 2
                    Cerebrooculofacioskeletal Syndrome 2 1
                    Cerebrooculofacioskeletal Syndrome 3 1
                    Cerebrooculofacioskeletal Syndrome 4 1
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.