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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:peripheral retinal degeneration
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Accession:DOID:12161 term browser browse the term
Synonyms:exact_synonym: peripheral degeneration of retina
 xref: ICD10CM:H35.4;   ICD9CM:362.6;   NCI:C34919
For additional species annotation, visit the Alliance of Genome Resources.


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retinal lattice degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Lattice retinal degeneration ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:33633367 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        retinal disease 1223
          retinal degeneration 853
            peripheral retinal degeneration 1
              Blessig's cysts 0
              cobblestone retinal degeneration 0
              pseudoretinitis pigmentosa 0
              retinal lattice degeneration 1
              secondary vitreoretinal degeneration 0
              senile reticular retinal degeneration 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  peripheral retinal degeneration 1
                    Blessig's cysts 0
                    cobblestone retinal degeneration 0
                    pseudoretinitis pigmentosa 0
                    retinal lattice degeneration 1
                    secondary vitreoretinal degeneration 0
                    senile reticular retinal degeneration 0
paths to the root