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;   TCS1;   TCS2;   Treacher Collins syndrome 1;   Treacher Collins syndrome 2
 narrow_synonym: TREACHER COLLINS SYNDROME, DOMINANT
 primary_id: RDO:0012126
 alt_id: OMIM:154500;   OMIM:613717
 xref: GARD:9124;   OMIM:PS154500
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Treacher Collins syndrome 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:13592920
G Polr1d RNA polymerase I and III subunit D JBrowse link 12 9,693,828 9,727,416 RGD:7240710
RGD:8554872
G Tcof1 treacle ribosome biogenesis factor 1 JBrowse link 18 56,081,863 56,115,719 RGD:1599379
RGD:8554872
RGD:7240710
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 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 14875
    Developmental Diseases 7711
      bone development disease 891
        dysostosis 233
          Crouzon syndrome 23
            Mandibulofacial Dysostosis 17
              Treacher Collins syndrome 3
                Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        Treacher Collins syndrome 3
                          Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 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.