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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: Chotzen syndrome
ClinVar Annotator: match by term: ACS III
ClinVar
OMIM
PMID:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9585583, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:28492532, PMID:30311386, 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:1956068, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8723106, PMID:8841188, PMID:8845844, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359, PMID:10053006, PMID:10094188, PMID:10213050, PMID:10602123, PMID:10777366, PMID:10861678, PMID:11424131, PMID:11746040, PMID:12707965, PMID:14613973, PMID:15241680, PMID:15915095, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19215249, PMID:19449410, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, 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: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 16058
    syndrome 6996
      chromosomal duplication syndrome 740
        syndactyly 58
          acrocephalosyndactylia 8
            Saethre-Chotzen syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    acrocephalosyndactylia 8
                      Saethre-Chotzen syndrome 3
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.