Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
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 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defect ClinVar PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... NCBI chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979
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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12077706 RGD:1599034 NCBI chr 4:110,512,349...110,523,222
Ensembl chr 4:110,498,707...110,524,072
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr 5:57,555,448...57,582,324
Ensembl chr 5:57,556,149...57,594,423
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:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
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 chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188
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 chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979
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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 4:110,512,349...110,523,222
Ensembl chr 4:110,498,707...110,524,072
JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr14:105,010,974...105,122,628
Ensembl chr14:105,050,691...105,122,421
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 chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979
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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222
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 chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979
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 chr 4:50,112,927...50,263,264
Ensembl chr 4:50,112,927...50,263,222
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:20301591 More... NCBI chr 4:110,512,349...110,523,222
Ensembl chr 4:110,498,707...110,524,072
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:20301591 PMID:23776498 More... NCBI chr14:105,010,974...105,122,628
Ensembl chr14:105,050,691...105,122,421
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 chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
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 ClinVar Annotator: match by term: Blue color blindness OMIM
ClinVar
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 More... NCBI chr18:19,836,453...19,839,425
Ensembl chr18:19,836,453...19,839,425
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM
ClinVar
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
red-green color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Deutan defect | ClinVar Annotator: match by term: Deuteranopia OMIM
ClinVar
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14589
    sensory system disease 6115
      Vision Disorders 240
        blindness 176
          color blindness 11
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 7
            acquired color blindness 0
            blue color blindness 1
            red color blindness 0
            red-green color blindness 1
Path 2
Term Annotations click to browse term
  disease 14589
    disease of anatomical entity 14301
      nervous system disease 12162
        Neurologic Manifestations 8689
          sensory system disease 6115
            eye disease 2836
              Vision Disorders 240
                blindness 176
                  color blindness 11
                    Colorblindness, Partial Tritanomaly 0
                    achromatopsia + 7
                    acquired color blindness 0
                    blue color blindness 1
                    red color blindness 0
                    red-green color blindness 1
paths to the root