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ONTOLOGY REPORT - ANNOTATIONS


Term:Sorsby's fundus dystrophy
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Accession:DOID:0090114 term browser browse the term
Definition:A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: Fundus Dystrophy, Pseudoinflammatory, of Sorsby;   Macular Dystrophy, Hemorrhagic;   SFD;   SORSBY FUNDUS DYSTROPHY
 primary_id: MESH:C564992
 alt_id: OMIM:136900;   RDO:0013764
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Sorsby's fundus dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Diseases of the Aged 1150
      macular degeneration 138
        Sorsby's fundus dystrophy 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              retinal disease 704
                retinal degeneration 409
                  fundus dystrophy 263
                    hereditary retinal dystrophy 2
                      Sorsby's fundus dystrophy 2
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