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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 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 chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15386
    sensory system disease 6383
      Vision Disorders 275
        blindness 209
          color blindness 12
            achromatopsia 8
              Achromatopsia 1 2
Path 2
Term Annotations click to browse term
  disease 15386
    disease of anatomical entity 15029
      nervous system disease 12694
        Neurologic Manifestations 9071
          sensory system disease 6383
            eye disease 2969
              Vision Disorders 275
                blindness 209
                  color blindness 12
                    achromatopsia 8
                      Achromatopsia 1 2
paths to the root