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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 2
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Accession:DOID:0080790 term browser browse the term
Definition:A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: TCS2
 primary_id: OMIM:613717
For additional species annotation, visit the Alliance of Genome Resources.


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Treacher Collins syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar
PMID:21131976 PMID:24603435 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Treacher Collins syndrome 5
        Treacher Collins syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5427
        connective tissue disease 4135
          bone disease 3505
            bone development disease 1305
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Treacher Collins syndrome 5
                          Treacher Collins syndrome 2 1
paths to the root