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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.


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 Cd74 CD74 molecule ISO ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant ClinVar NCBI chr18:56,071,420...56,080,851
Ensembl chr18:56,071,478...56,080,849
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Polr1d RNA polymerase I and III subunit D ISS OMIM:154500 | OMIM:248390 | OMIM:613717 MouseDO NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
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
MouseDO
ClinVar
PMID:9096354 RGD:1599379 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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:9736782, PMID:9811939, PMID:10982400, PMID:11013442, PMID:12114482, PMID:14598341, PMID:15214011, PMID:15340364, PMID:19050407, PMID:21951868, PMID:22317976, PMID:23967202, PMID:24108658, PMID:25741868, PMID:26467025, PMID:28065470, PMID:28419064, PMID:28492532 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
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 NCBI chr12:9,693,828...9,727,416
Ensembl chr12:9,693,779...9,727,489
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: 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 term: POLR1C-Related Disorders
ClinVar Annotator: match by OMIM:248390
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
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 3:121,632,043...121,656,506
Ensembl chr 3:121,632,043...121,656,506
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Treacher Collins syndrome 5
        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 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        Treacher Collins syndrome 5
                          Treacher Collins syndrome 1 1
                          Treacher Collins syndrome 2 1
                          Treacher Collins syndrome 3 1
                          Treacher Collins syndrome 4 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.