Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Beare-Stevenson cutis gyrata syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Beare-Stevenson cutis gyrata syndrome 1
Path 2
Term Annotations click to browse term
  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
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.