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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 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: VRCP autosomal dominant OMIM
ClinVar
PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 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 PMID:14615048 PMID:25741868 PMID:28492532 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 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 18154
    sensory system disease 6409
      eye disease 2937
        fundus dystrophy 390
          hereditary retinal dystrophy 4
            Sorsby's fundus dystrophy 2
            autosomal dominant vitreoretinochoroidopathy 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          eye disease 2937
            eye degenerative disease 533
              retinal degeneration 531
                fundus dystrophy 390
                  hereditary retinal dystrophy 4
                    Sorsby's fundus dystrophy 2
                    autosomal dominant vitreoretinochoroidopathy 2
paths to the root