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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 3
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Accession:DOID:9007916 term browser browse the term
Synonyms:exact_synonym: ARMD3;   HNARMD
 related_synonym: hereditary neuropathy with or without age-related macular degeneration
 primary_id: MESH:C563838
 alt_id: OMIM:608895



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Age Related Macular Degeneration 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION OMIM
ClinVar
PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
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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 3 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 3 1
paths to the root