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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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show annotations for term's descendants           Sort by:
retinal lattice degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624741:28,591,529...28,610,382 JBrowse link
G 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 2:1,385,108...1,411,960 JBrowse link
G P 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 chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
JBrowse link
G S 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 chrNW_004936514:10,319,187...10,340,921 JBrowse link
G D 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 chr24:46,653,400...46,669,183
Ensembl chr24:46,662,376...46,667,884
JBrowse link
G B 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 chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871
JBrowse link
G C 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 chrNW_004955528:1,286,314...1,305,863 JBrowse link
G R 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
G M Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Lattice retinal degeneration ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:33633367 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982
JBrowse link
G H COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Lattice retinal degeneration ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:33633367 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175454
    sensory system disease 68430
      eye disease 34975
        retinal disease 12561
          retinal degeneration 8570
            peripheral retinal degeneration 10
              Blessig's cysts 0
              cobblestone retinal degeneration 0
              pseudoretinitis pigmentosa 0
              retinal lattice degeneration 10
              secondary vitreoretinal degeneration 0
              senile reticular retinal degeneration 0
Path 2
Term Annotations click to browse term
  disease 175454
    Pathological Conditions, Signs and Symptoms 128237
      Signs and Symptoms 104323
        Neurologic Manifestations 100091
          sensory system disease 68430
            eye disease 34975
              eye degenerative disease 8586
                retinal degeneration 8570
                  peripheral retinal degeneration 10
                    Blessig's cysts 0
                    cobblestone retinal degeneration 0
                    pseudoretinitis pigmentosa 0
                    retinal lattice degeneration 10
                    secondary vitreoretinal degeneration 0
                    senile reticular retinal degeneration 0
paths to the root