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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
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 chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
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:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO 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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD PMID:30418171, PMID:10958649 RGD:1600870 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12077706, PMID:12077706 RGD:1599034 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
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 chr 9:59,942,771...59,960,834
Ensembl chr 9:59,942,771...59,960,659
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr 6:136,952,218...136,963,485
Ensembl chr 6:136,923,832...136,968,865
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:128,913,588...128,920,037
Ensembl chr10:128,913,593...128,922,888
JBrowse link
G Rp2 retinitis pigmentosa 2 homolog 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:20,364,481...20,405,653
Ensembl chr  X:20,364,481...20,405,653
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) 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:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr12:85,824,693...86,053,760
Ensembl chr12:85,824,659...86,061,893
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 chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
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 chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:119,236,524...119,352,407
Ensembl chr 6:119,236,526...119,352,407
JBrowse link
G Cnga3 cyclic nucleotide gated channel 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 chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel 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 chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO
IEA
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 chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
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 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
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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment 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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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, sub-family A (ABC1), 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 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
ClinVar Annotator: match by OMIM:216900
OMIM
ClinVar
MouseDO
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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel 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 chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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 beta 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by OMIM:262300
OMIM
ClinVar
MouseDO
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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
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:26029869, PMID:26063662 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
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 (cone pigments), short-wave-sensitive (color blindness, tritan) ISO ClinVar Annotator: match by term: Tritanopia
ClinVar Annotator: match by OMIM:190900
OMIM
ClinVar
PMID:1386496, PMID:1531728, PMID:2937147, PMID:25605338, PMID:28492532 NCBI chr 6:29,376,671...29,380,513
Ensembl chr 6:29,376,671...29,388,468
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO
IEA
OMIM:303700
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by OMIM:303700
OMIM
MouseDO
ClinVar
PMID:1881435, PMID:8666378, PMID:8792812, PMID:15094734 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:12051694 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    sensory system disease 4966
      eye disease 2565
        blindness 98
          color blindness 19
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 9
            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 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        Neurologic Manifestations 4075
          Sensation Disorders 1008
            Vision Disorders 199
              blindness 98
                color blindness 19
                  Colorblindness, Partial Tritanomaly 0
                  achromatopsia + 9
                  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.