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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:age related macular degeneration 5
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Accession:DOID:0110028 term browser browse the term
Definition:An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: ARMD5
 primary_id: OMIM:613761



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Diseases of the Aged 1232
      macular degeneration 151
        degeneration of macula and posterior pole 75
          age related macular degeneration 46
            age related macular degeneration 5 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              retinal disease 1175
                retinal degeneration 821
                  macular degeneration 151
                    degeneration of macula and posterior pole 75
                      age related macular degeneration 46
                        age related macular degeneration 5 1
paths to the root