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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 CONDITION;   C2-RELATED DISORDER
 primary_id: MIM:615489


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age related macular degeneration 14 term browser
Symbol Object Name 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:3002862 PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 More... NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 More... NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		JBrowse link
G CFB complement factor B 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 chr12:1,400,143...1,406,267 JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 NCBI chr 8:1,162,203...1,231,809
Ensembl chr 8:1,162,923...1,231,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    Diseases of the Aged 1254
      macular degeneration 154
        degeneration of macula and posterior pole 77
          age related macular degeneration 49
            age related macular degeneration 14 4
Path 2
Term Annotations click to browse term
  disease 15753
    Pathological Conditions, Signs and Symptoms 12322
      Signs and Symptoms 10317
        Neurologic Manifestations 9992
          sensory system disease 7034
            eye disease 3622
              retinal disease 1422
                retinal degeneration 908
                  macular degeneration 154
                    degeneration of macula and posterior pole 77
                      age related macular degeneration 49
                        age related macular degeneration 14 4
paths to the root