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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;   ARMS2-RELATED CONDITION
 primary_id: MIM:613778


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age related macular degeneration 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 ISO ClinVar Annotator: match by term: Age related macular degeneration 8 OMIM
ClinVar		 PMID:16174643 PMID:16642439 PMID:16936732 PMID:17884985 PMID:19259132 More... NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    Developmental Disease 13855
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12943
        genetic disease 12641
          age related macular degeneration 8 1
Path 2
Term Annotations click to browse term
  disease 15833
    Pathological Conditions, Signs and Symptoms 12339
      Signs and Symptoms 10384
        Neurologic Manifestations 10060
          sensory system disease 7065
            eye disease 3622
              eye degenerative disease 898
                retinal degeneration 896
                  macular degeneration 156
                    degeneration of macula and posterior pole 80
                      age related macular degeneration 51
                        age related macular degeneration 8 1
paths to the root