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ONTOLOGY REPORT - ANNOTATIONS


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: 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 JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
RGD:7240710
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Twist1 twist family bHLH transcription factor 1 JBrowse link 6 53,401,241 53,403,235 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        Musculoskeletal Abnormalities 1302
          synostosis 202
            acrocephalosyndactylia 8
              Saethre-Chotzen syndrome 3
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    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.