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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:Achromatopsia 1
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Accession:DOID:9003656 term browser browse the term
Synonyms:exact_synonym: Rod monochromacy;   Rod monochromatism
 primary_id: MESH:C536021
 alt_id: RDO:0001431
For additional species annotation, visit the Alliance of Genome Resources.



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Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) RGD PMID:18521937 RGD:9068452 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14896
    sensory system disease 6187
      Vision Disorders 242
        blindness 176
          color blindness 11
            achromatopsia 7
              Achromatopsia 1 2
Path 2
Term Annotations click to browse term
  disease 14896
    disease of anatomical entity 14565
      nervous system disease 12400
        Neurologic Manifestations 8834
          sensory system disease 6187
            eye disease 2868
              Vision Disorders 242
                blindness 176
                  color blindness 11
                    achromatopsia 7
                      Achromatopsia 1 2
paths to the root