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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: COFS;   Cofs Syndrome
 primary_id: RDO:9005212
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: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 14759
    syndrome 4210
      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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                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