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ONTOLOGY REPORT - ANNOTATIONS


Term:Beare-Stevenson cutis gyrata syndrome
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Accession:DOID:0050660 term browser browse the term
Definition:A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: BSTVS;   Beare-Stevenson syndrome;   cutis gyrata syndrome of Beare and Stevenson;   cutis gyrata syndrome of Beare-Stevenson
 primary_id: MESH:C565129
 alt_id: OMIM:123790
 xref: GARD:332
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Beare-Stevenson cutis gyrata 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:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Beare-Stevenson cutis gyrata syndrome 1
Path 2
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  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              dysostosis 318
                synostosis 210
                  craniosynostosis 170
                    Beare-Stevenson cutis gyrata syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.