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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 3
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Accession:DOID:0080791 term browser browse the term
Definition:A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive;   TCS3
 broad_synonym: POLR1C-RELATED DISORDER;   POLR1C-RELATED DISORDERS;   Treacher Collins syndrome, recessive
 primary_id: MESH:C535707
 alt_id: DOID:9002139;   OMIM:248390
For additional species annotation, visit the Alliance of Genome Resources.


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Treacher Collins syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by OMIM:248390
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive
ClinVar Annotator: match by term: POLR1C-Related Disorders
ClinVar Annotator: match by term: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
ClinVar Annotator: match by term: Treacher Collins syndrome 3
OMIM
ClinVar
PMID:610060, PMID:11013442, PMID:21131976, PMID:22563501, PMID:24942156, PMID:25741868, PMID:26151409, PMID:26467025, PMID:28327206, PMID:28492532, PMID:29567474, PMID:30311386 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Treacher Collins syndrome 5
        Treacher Collins syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Treacher Collins syndrome 5
                          Treacher Collins syndrome 3 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.