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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:A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (DO)
Synonyms:exact_synonym: 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 1:161,766,298...161,977,574
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 CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP
EXP
ClinVar Annotator: match by term: Color vision defect
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... RGD:734792 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 susceptibility IAGP
EXP
DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:30418171 PMID:10958649 RGD:1600870 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Color vision defect ClinVar PMID:16199547 PMID:16770791 PMID:19937601 PMID:25007885 PMID:27234031 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 PMID:12077706 RGD:1599034 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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
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:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... 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 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:12077706 PMID:25741868 PMID:28492532 PMID:31058429 PMID:31144483 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G PDE6C phosphodiesterase 6C IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... 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 monochromatism
ClinVar
RGD
PMID:9662398 PMID:11536077 PMID:14757870 PMID:17693388 PMID:23972307 More... 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
IMP
ISO
DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromatism
ClinVar
RGD
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... 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
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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
ISS
EXP
ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:86,574,179...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
ISS
EXP
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 More... NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G LOC129388577 MPRA-validated peak357 silencer IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar PMID:25741868 PMID:28492532 PMID:31058429 NCBI chr 1:109,605,893...109,606,093 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:16199547 PMID:19615668 PMID:19887631 PMID:21127010 PMID:23776498 More... 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
ISS
EXP
ClinVar Annotator: match by term: Achromatopsia 7
OMIM:616517
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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
EXP
ClinVar Annotator: match by term: Blue color blindness
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tritanopia
OMIM
ClinVar
CTD
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25741868 PMID:28492532 More... NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC125467793 Sharpr-MPRA regulatory region 3572 IAGP ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:154,136,674...154,136,968 JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP
EXP
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Blue cone monochromacy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type
ClinVar
CTD
OMIM
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 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
ISS
EXP
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
OMIM:303700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar
MouseDO
CTD
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... 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
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Protan defect
OMIM
CTD
ClinVar
PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868 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
EXP
ClinVar Annotator: match by term: Colorblindness, partial, deutan series
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar
CTD
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Deuteranopia ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    sensory system disease 9668
      Vision Disorders 361
        blindness 281
          color blindness 17
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 12
            acquired color blindness 0
            blue color blindness 1
            red color blindness 1
            red-green color blindness 2
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Neurologic Manifestations 15108
          sensory system disease 9668
            eye disease 4877
              Vision Disorders 361
                blindness 281
                  color blindness 17
                    Colorblindness, Partial Tritanomaly 0
                    achromatopsia + 12
                    acquired color blindness 0
                    blue color blindness 1
                    red color blindness 1
                    red-green color blindness 2
paths to the root