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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:color blindness
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Accession:DOID:13399 term browser browse the term
Definition:Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.
Synonyms:exact_synonym: acquired color blindness;   color vision defect;   color vision defects;   color vision deficiency;   colour blindnes;   colour blindness;   colour vision deficiency;   green color blindness;   inherited color blindness;   monochromatopsia
 primary_id: MESH:D003117
 xref: ICD10CM:H53.5;   ICD10CM:H53.50;   ICD9CM:368.5;   NCI:C3891
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 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 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr30:35,375,181...35,382,398 JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:120,386...125,195
Ensembl chr10:120,057...125,197
JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
JBrowse link
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:24033266, PMID:28041643 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 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 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 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 ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
DNA:deletion: :c.1148delC (human)
RGD
ClinVar
PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 RGD:9068446, RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IEA
ISO
Achromatopsia-2 OMIA
OMIM
PMID:26407004 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 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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
IEA
Achromatopsia (cone degeneration, hemeralopia), GSPT
Achromatopsia (cone degeneration, hemeralopia), AMAL
OMIM
OMIA
PMID:5298491, PMID:12140185, PMID:16879359, PMID:20061167, PMID:20378608, PMID:22065099, PMID:23568263, PMID:23601474, PMID:25752464, PMID:29020838 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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 OMIM NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
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:19887631, PMID:25741868, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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 OMIM NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1SW opsin 1, short wave sensitive ISO OMIM NCBI chr14:7,865,370...7,869,516
Ensembl chr14:7,865,561...7,868,745
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12673
    sensory system disease 4762
      eye disease 2449
        blindness 92
          color blindness 18
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 8
            acquired color blindness 0
            blue color blindness 1
            red color blindness 1
            red-green color blindness 0
Path 2
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      nervous system disease 9959
        Neurologic Manifestations 3946
          Sensation Disorders 955
            Vision Disorders 194
              blindness 92
                color blindness 18
                  Colorblindness, Partial Tritanomaly 0
                  achromatopsia + 8
                  acquired color blindness 0
                  blue color blindness 1
                  red color blindness 1
                  red-green color blindness 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.