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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 11
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Accession:DOID:0110023 term browser browse the term
Definition:An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. (DO)
Synonyms:exact_synonym: ARMD11
 primary_id: MESH:C567450
 alt_id: OMIM:611953


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age related macular degeneration 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Age related macular degeneration 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1474
      macular degeneration 161
        degeneration of macula and posterior pole 78
          age related macular degeneration 48
            age related macular degeneration 11 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              retinal disease 1223
                retinal degeneration 853
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      age related macular degeneration 48
                        age related macular degeneration 11 1
paths to the root