ONTOLOGY REPORT - ANNOTATIONS


Term:Beare-Stevenson cutis gyrata syndrome
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Accession:DOID:0050660 term browser browse the term
Definition:An autosomal dominant disease 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: BEARE-STEVENSON SYNDROME;   BSTVS;   Cutis Gyrata Syndrome of Beare And Stevenson;   Cutis Gyrata Syndrome of Beare-Stevenson
 primary_id: MESH:C565129;   RDO:0013856
 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          Beare-Stevenson cutis gyrata syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            pigmentation disease 212
              Hyperpigmentation 44
                Melanosis 34
                  acanthosis nigricans 6
                    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.