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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: GARD:9124;   ICD10CM:Q75.4;   NCI:C75018;   OMIM:PS154500
For additional species annotation, visit the Alliance of Genome Resources.


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Treacher Collins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcof1 treacle ribosome biogenesis factor 1 ISO
ISS
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant
OMIM:154500 | OMIM:248390 | OMIM:613717
ClinVar
MouseDO
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:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 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 ClinVar Annotator: match by term: Treacher Collins syndrome 2 OMIM
ClinVar
PMID:21131976 PMID:24603435 PMID:25741868 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 ClinVar Annotator: match by term: POLR1C-Related Disorders
ClinVar Annotator: match by term: Treacher Collins syndrome 3
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive
ClinVar Annotator: match by term: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
ClinVar Annotator: match by OMIM:248390
OMIM
ClinVar
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 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: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 17205
    syndrome 8125
      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 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        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