Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 CONDITION;   POLR1C-related disorder;   POLR1C-related disorders;   Treacher Collins syndrome, recessive
 primary_id: MESH:C535707
 alt_id: MIM:248390


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 		OMIM
CTD
ClinVar		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Treacher Collins syndrome 3 ClinVar PMID:25741868 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:22,935,887...22,939,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Treacher Collins syndrome 5
        Treacher Collins syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  craniosynostosis 340
                    Crouzon syndrome 34
                      Mandibulofacial Dysostosis 28
                        Treacher Collins syndrome 5
                          Treacher Collins syndrome 3 2
paths to the root