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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:Macular Dystrophy, Retinal, 2
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Accession:DOID:9002240 term browser browse the term
Definition:This disease is a rare, genetic macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy associated with decrease in visual acuity and central scotomata.
Synonyms:exact_synonym: MCDR2;   RETINAL MACULAR DYSTROPHY TYPE 2
 primary_id: MESH:C562746;   RDO:0012331
 alt_id: OMIM:608051;   ORPHA:319640
For additional species annotation, visit the Alliance of Genome Resources.



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Macular Dystrophy, Retinal, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal macular dystrophy type 2 OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:16199547 PMID:17605048 PMID:18654668 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Diseases of the Aged 1292
      macular degeneration 142
        Macular Dystrophy, Retinal, 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            eye degenerative disease 511
              retinal degeneration 509
                macular degeneration 142
                  Macular Dystrophy, Retinal, 2 1
paths to the root