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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 4
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Accession:DOID:0110017 term browser browse the term
Definition:An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: ARMD4
 primary_id: MESH:C565196
 alt_id: OMIM:610698
 xref: NCI:C174215

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age related macular degeneration 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFH complement factor H ISO ClinVar Annotator: match by term: Age related macular degeneration 4 ClinVar
OMIM		 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 More... NCBI chr25:32,557,697...32,744,763 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    Diseases of the Aged 1212
      macular degeneration 151
        degeneration of macula and posterior pole 76
          age related macular degeneration 47
            age related macular degeneration 4 1
Path 2
Term Annotations click to browse term
  disease 15274
    Pathological Conditions, Signs and Symptoms 11782
      Signs and Symptoms 9746
        Neurologic Manifestations 9424
          sensory system disease 6524
            eye disease 3346
              retinal disease 1161
                retinal degeneration 816
                  macular degeneration 151
                    degeneration of macula and posterior pole 76
                      age related macular degeneration 47
                        age related macular degeneration 4 1
paths to the root