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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Sorsby's fundus dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy OMIM
ClinVar
PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Diseases of the Aged 1289
      macular degeneration 143
        Sorsby's fundus dystrophy 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          eye disease 2733
            retinal disease 836
              retinal degeneration 506
                fundus dystrophy 372
                  hereditary retinal dystrophy 4
                    Sorsby's fundus dystrophy 2
paths to the root