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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 4
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Accession:DOID:0080792 term browser browse the term
Definition:A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: TCS4
 primary_id: OMIM:618939
For additional species annotation, visit the Alliance of Genome Resources.



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Treacher Collins syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1b RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Treacher Collins syndrome 4 OMIM
ClinVar
PMID:31649276 NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Treacher Collins syndrome 4
        Treacher Collins syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Skin and Connective Tissue Diseases 5840
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Treacher Collins syndrome 4
                          Treacher Collins syndrome 4 1
paths to the root