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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


show annotations for term's descendants           Sort by:
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
ISS		 ClinVar Annotator: match by term: Sorsby fundus dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:136900		 OMIM
ClinVar
CTD
MouseDO		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:17,520,827...17,571,850
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 18969
    Diseases of the Aged 1472
      macular degeneration 159
        Sorsby's fundus dystrophy 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              eye degenerative disease 853
                retinal degeneration 851
                  fundus dystrophy 703
                    hereditary retinal dystrophy 4
                      Sorsby's fundus dystrophy 2
paths to the root