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ONTOLOGY REPORT - ANNOTATIONS


Term:Treacher Collins syndrome
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Accession:DOID:2908 term browser browse the term
Synonyms:exact_synonym: Franceschetti syndrome;   MFD1;   Mandibulofacial Dysostosis (MFD1);   TCS
 narrow_synonym: Treacher Collins syndrome, dominant
 xref: GARD:9124;   ICD10CM:Q75.4;   NCI:C75018;   OMIM:PS154500
For additional species annotation, visit the Alliance of Genome Resources.


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Treacher Collins syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd74 CD74 molecule JBrowse link 18 56,071,420 56,080,851 RGD:8554872
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:13592920
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:8554872
RGD:13592920
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:1599379
RGD:13592920
RGD:8554872
Treacher Collins Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:7240710
Treacher Collins Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:7240710
Treacher Collins Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Treacher Collins syndrome 4
        Treacher Collins Syndrome 1 1
        Treacher Collins Syndrome 2 1
        Treacher Collins Syndrome 3 1
        Treacher Collins Syndrome 4 0
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              dysostosis 318
                synostosis 210
                  craniosynostosis 170
                    Crouzon syndrome 22
                      Mandibulofacial Dysostosis 16
                        Treacher Collins syndrome 4
                          Treacher Collins Syndrome 1 1
                          Treacher Collins Syndrome 2 1
                          Treacher Collins Syndrome 3 1
                          Treacher Collins Syndrome 4 0
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.