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
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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

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Path 1
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          Saethre-Chotzen syndrome 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      Skin and Connective Tissue Diseases 3929
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    acrocephalosyndactylia 7
                      Saethre-Chotzen syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.