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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:hereditary retinal dystrophy
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Accession:DOID:8500 term browser browse the term
Synonyms:xref: ICD9CM:362.7;   NCI:C35194
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant		 OMIM
CTD
ClinVar		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
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 Annotator: match by term: TIMP3-related condition 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 | ClinVar Annotator: match by term: TIMP3-related condition
OMIM:136900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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 19137
    sensory system disease 7376
      eye disease 3723
        fundus dystrophy 783
          hereditary retinal dystrophy 4
            Sorsby's fundus dystrophy 2
            autosomal dominant vitreoretinochoroidopathy 2
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              retinal disease 1458
                retinal degeneration 925
                  fundus dystrophy 783
                    hereditary retinal dystrophy 4
                      Sorsby's fundus dystrophy 2
                      autosomal dominant vitreoretinochoroidopathy 2
paths to the root