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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;   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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility IAGP associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BLOC1S1-RDH5 BLOC1S1-RDH5 readthrough IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr12:55,716,034...55,724,742 JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP 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:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP
EXP
ClinVar Annotator: match by term: Color vision defects
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achromatopsia
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209, PMID:11536077 RGD:734792 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility IAGP
EXP
DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD PMID:30418171, PMID:10958649 RGD:1600870 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:12077706, PMID:12077706 RGD:1599034 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP 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 chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
JBrowse link
G PDE6B phosphodiesterase 6B IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 4:587,325...670,892
Ensembl chr 4:625,584...670,782
JBrowse link
G PDE6H phosphodiesterase 6H EXP CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
JBrowse link
G RDH5 retinol dehydrogenase 5 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705
JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP 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:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358
JBrowse link
G RS1 retinoschisin 1 IAGP 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:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079
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 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr11:67,452,403...67,461,774
Ensembl chr11:67,452,406...67,460,313
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr12:1,791,963...1,922,606
Ensembl chr12:1,791,963...1,918,666
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP 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 chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP 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 chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
G PDE6C phosphodiesterase 6C IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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 IAGP 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
ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209, PMID:18521937 RGD:9068452 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...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)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
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:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:17265047, PMID:21576125, PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP 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 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar
OMIM
PMID:9662398, PMID:11536077, PMID:14715947, PMID:14757870, PMID:15712225, PMID:15980212, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24676353, PMID:24903488, PMID:24906859, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26106334, PMID:26407004, PMID:26992781, PMID:28041643, PMID:28159970, PMID:28492532, PMID:29099798, PMID:30289319, PMID:30311386, PMID:30337596, PMID:30682209 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP 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 chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar
OMIM
PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12357335, PMID:12815043, PMID:14757870, PMID:15223812, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:22264887, PMID:23776498, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25474149, PMID:25558076, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:26992781, PMID:27479814, PMID:27874104, PMID:28005958, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28795510, PMID:29186038, PMID:29769798, PMID:30311386, PMID:30337596, PMID:30718709 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar
OMIM
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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 IAGP ClinVar Annotator: match by term: Achromatopsia 7 ClinVar
OMIM
PMID:24824130, PMID:26029869, PMID:26063662 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
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 IAGP ClinVar Annotator: match by term: Tritanopia ClinVar
OMIM
PMID:1386496, PMID:1531728, PMID:2937147, PMID:25605338, PMID:28492532 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,491...128,775,790
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, long wave sensitive IAGP ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar
OMIM
PMID:1881435, PMID:8666378, PMID:8792812, PMID:15094734 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar
OMIM
PMID:1302020, PMID:2788922, PMID:8666378, PMID:11772996, PMID:15094734, PMID:19421413, PMID:20579627 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:154,137,727...154,144,286 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, long wave sensitive IAGP ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:12051694 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
red-green color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Colorblindness, partial, deutan series
ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar
OMIM
PMID:1302020, PMID:2788922, PMID:8666378, PMID:11772996, PMID:12051694, PMID:12626747, PMID:15094734, PMID:19421413 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18830
    sensory system disease 5661
      eye disease 2928
        blindness 135
          color blindness 22
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 11
            acquired color blindness 0
            blue color blindness 1
            red color blindness 1
            red-green color blindness 1
Path 2
Term Annotations click to browse term
  disease 18830
    disease of anatomical entity 17318
      nervous system disease 13394
        Neurologic Manifestations 4709
          Sensation Disorders 1221
            Vision Disorders 241
              blindness 135
                color blindness 22
                  Colorblindness, Partial Tritanomaly 0
                  achromatopsia + 11
                  acquired color blindness 0
                  blue color blindness 1
                  red color blindness 1
                  red-green color blindness 1
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.