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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:Radial Drusen, Autosomal Dominant
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Accession:DOID:9005916 term browser browse the term
Synonyms:primary_id: MESH:C565088



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Radial Drusen, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr14:106,811,769...106,890,961
Ensembl chr14:102,610,908...102,690,018
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:14,066,156...14,081,454
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          Radial Drusen, Autosomal Dominant 2
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              retinal disease 1459
                retinal degeneration 926
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      retinal drusen 3
                        Radial Drusen, Autosomal Dominant 2
paths to the root