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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:Saethre-Chotzen syndrome
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Accession:DOID:14768 term browser browse the term
Definition:An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (DO)
Synonyms:exact_synonym: ACS III;   ACS3;   BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3;   BPES3;   Chotzen syndrome;   OMIM:101400;   SCS;   Saethre-Chotzen Syndrome with Eyelid Anomalies;   acrocephalosyndactylies, type 3;   acrocephalosyndactylies, type III;   acrocephalosyndactyly III;   acrocephalosyndactyly type III
 primary_id: MESH:C566325
 alt_id: RDO:0014711
 xref: GARD:7598;   NCI:C75034;   ORDO:794
For additional species annotation, visit the Alliance of Genome Resources.

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Saethre-Chotzen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome
ClinVar Annotator: match by term: ACS III		 ClinVar
OMIM		 PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9585583 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Saethre-Chotzen syndrome		 ClinVar
CTD
OMIM		 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9934984 PMID:10649491 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11977182 PMID:19373776 PMID:20643727 PMID:24127277 PMID:25741868 PMID:25741869 PMID:28492532 PMID:30311386 PMID:31837199 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      chromosomal duplication syndrome 742
        syndactyly 58
          acrocephalosyndactylia 8
            Saethre-Chotzen syndrome 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                synostosis 228
                  craniosynostosis 175
                    acrocephalosyndactylia 8
                      Saethre-Chotzen syndrome 3
paths to the root