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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 14759
    sensory system disease 4231
      skin disease 2240
        Skin Abnormalities 340
          Beare-Stevenson cutis gyrata syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            pigmentation disease 210
              Hyperpigmentation 44
                Melanosis 34
                  acanthosis nigricans 6
                    Beare-Stevenson cutis gyrata syndrome 1
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