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Term:Sorsby's fundus dystrophy
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Accession:DOID:0090114 term browser browse the term
Definition:A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Diseases of the Aged 1219
      macular degeneration 139
        Sorsby's fundus dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          eye disease 2388
            retinal disease 754
              retinal degeneration 446
                fundus dystrophy 313
                  hereditary retinal dystrophy 4
                    Sorsby's fundus dystrophy 2
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