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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 8
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Accession:DOID:0110020 term browser browse the term
Definition:An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. (DO)
Synonyms:exact_synonym: ARMD8
 primary_id: MIM:613778


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          age related macular degeneration 8 0
Path 2
Term Annotations click to browse term
  disease 19087
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11085
        Neurologic Manifestations 10336
          sensory system disease 7249
            eye disease 3725
              eye degenerative disease 853
                retinal degeneration 851
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      age related macular degeneration 48
                        age related macular degeneration 8 0
paths to the root