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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
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Accession:DOID:2908 term browser browse the term
Definition:A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. (DO)
Synonyms:exact_synonym: Franceschetti syndrome;   MFD1;   Mandibulofacial Dysostosis (MFD1);   TCS
 narrow_synonym: Treacher Collins syndrome, dominant
 xref: EFO:0003954;   GARD:9124;   ICD10CM:Q75.4;   MONDO:0002457;   NCI:C75018;   OMIM:PS154500
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Treacher Collins syndrome 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 ClinVar PMID:31649276 NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Treacher Collins syndrome ClinVar PMID:24603435 NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS		 OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome		 MouseDO
ClinVar
RGD		 PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 PMID:9096354 RGD:1599379 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324 		JBrowse link
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: Treacher Collins syndrome 1 OMIM
ClinVar		 PMID:2231797 PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 More... NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Treacher Collins syndrome 2		 OMIM
CTD
ClinVar		 PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624 		JBrowse link
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: POLR1C-Related Disorders | 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 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
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:25741868 PMID:31649276 NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Treacher Collins syndrome 4
        Treacher Collins syndrome 1 1
        Treacher Collins syndrome 2 1
        Treacher Collins syndrome 3 1
        Treacher Collins syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Skin and Connective Tissue Diseases 7346
        connective tissue disease 5695
          bone disease 4209
            bone development disease 2248
              dysostosis 564
                synostosis 363
                  craniosynostosis 304
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Treacher Collins syndrome 4
                          Treacher Collins syndrome 1 1
                          Treacher Collins syndrome 2 1
                          Treacher Collins syndrome 3 1
                          Treacher Collins syndrome 4 1
paths to the root