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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 14
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Accession:DOID:0110026 term browser browse the term
Definition:An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. (DO)
Synonyms:exact_synonym: ARMD14
 narrow_synonym: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
 broad_synonym: C2-RELATED DISORDER
 primary_id: OMIM:615489

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age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... NCBI chrNW_004936727:1,602,400...1,615,974
Ensembl chrNW_004936727:1,602,398...1,616,060 		JBrowse link
G Cfb complement factor B susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 14 ClinVar
OMIM		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1179
      macular degeneration 141
        degeneration of macula and posterior pole 67
          age related macular degeneration 39
            age related macular degeneration 14 3
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            eye disease 3211
              retinal disease 1118
                retinal degeneration 782
                  macular degeneration 141
                    degeneration of macula and posterior pole 67
                      age related macular degeneration 39
                        age related macular degeneration 14 3
paths to the root