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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 2
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Accession:DOID:0110015 term browser browse the term
Definition:An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. (DO)
Synonyms:exact_synonym: ARMD2;   age related maculopathy 2
 related_synonym: age related macular degeneration 2, susceptibility to
 primary_id: MESH:C562479
 alt_id: OMIM:153800


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age related macular degeneration 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2		 OMIM
CTD
ClinVar		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Diseases of the Aged 1282
      macular degeneration 156
        degeneration of macula and posterior pole 76
          age related macular degeneration 46
            age related macular degeneration 2 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal degeneration 858
                  macular degeneration 156
                    degeneration of macula and posterior pole 76
                      age related macular degeneration 46
                        age related macular degeneration 2 2
paths to the root