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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.



show annotations for term's descendants           Sort by:
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 IAGP 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 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment IAGP
ISO
IMP
DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22380
    sensory system disease 7407
      Vision Disorders 339
        blindness 270
          color blindness 14
            achromatopsia 9
              Achromatopsia 1 2
Path 2
Term Annotations click to browse term
  disease 22380
    disease of anatomical entity 20917
      nervous system disease 16735
        Neurologic Manifestations 11006
          sensory system disease 7407
            eye disease 3423
              Vision Disorders 339
                blindness 270
                  color blindness 14
                    achromatopsia 9
                      Achromatopsia 1 2
paths to the root