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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 5
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Accession:DOID:0110028 term browser browse the term
Definition:An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: ARMD5
 primary_id: OMIM:613761


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age related macular degeneration 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 5		 CTD
ClinVar
OMIM		 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		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 5 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 5 1
paths to the root