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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Treacher Collins syndrome 1
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Accession:DOID:0080789 term browser browse the term
Definition:A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. (DO)
Synonyms:exact_synonym: TCOF1-RELATED CONDITION;   TCS1
 primary_id: OMIM:154500


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Treacher Collins syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1 OMIM
ClinVar		 PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 More... NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Treacher Collins syndrome 4
        Treacher Collins syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  craniosynostosis 315
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Treacher Collins syndrome 4
                          Treacher Collins syndrome 1 1
paths to the root