Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:13911 term browser browse the term
Definition:A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: ACHM;   monochromatism
 primary_id: RDO:9004252
 xref: ICD10CM:H53.51;   ICD9CM:368.54;   NCI:C84528;   ORDO:49382
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004955435:13,009,147...13,021,968
Ensembl chrNW_004955435:13,009,147...13,021,968 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chrNW_004955507:129,678...179,586
Ensembl chrNW_004955507:129,678...179,305 		JBrowse link
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 chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902 		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 chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437 		JBrowse link
achromatopsia 2 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 ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 OMIM
ClinVar		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902 		JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia OMIM
ClinVar		 PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437 		JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia 4 OMIM
ClinVar		 PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 More... NCBI chrNW_004955435:13,009,147...13,021,968
Ensembl chrNW_004955435:13,009,147...13,021,968 		JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:16199547 PMID:19615668 PMID:19887631 PMID:21127010 PMID:23776498 More... NCBI chrNW_004955507:129,678...179,586
Ensembl chrNW_004955507:129,678...179,305 		JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar		 PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6108
      Vision Disorders 157
        blindness 94
          color blindness 10
            achromatopsia 6
              Achromatopsia 1 2
              Achromatopsia 5 1
              Achromatopsia Incomplete, X-Linked 0
              achromatopsia 2 1
              achromatopsia 3 1
              achromatopsia 4 1
              achromatopsia 7 1
              blue cone monochromacy 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13780
      nervous system disease 12030
        Neurologic Manifestations 8781
          sensory system disease 6108
            eye disease 3138
              Vision Disorders 157
                blindness 94
                  color blindness 10
                    achromatopsia 6
                      Achromatopsia 1 2
                      Achromatopsia 5 1
                      Achromatopsia Incomplete, X-Linked 0
                      achromatopsia 2 1
                      achromatopsia 3 1
                      achromatopsia 4 1
                      achromatopsia 7 1
                      blue cone monochromacy 0
paths to the root