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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 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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Diseases of the Aged 1171
      macular degeneration 138
        Sorsby's fundus dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    hereditary retinal dystrophy 2
                      Sorsby's fundus dystrophy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.