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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.

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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 chrNW_004937131:170,649...183,942 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 chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		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 chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations		 CTD
RGD		 PMID:10958649 PMID:30418171 RGD:1600870 NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12077706 RGD:1599034 NCBI chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691 		JBrowse link
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157 		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 chrNW_004937131:170,649...183,942 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 chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322 		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 chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691 		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 chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377 		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 chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		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 chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		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 chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691 		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 chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377 		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 chrNW_004937131:170,649...183,942 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 chrNW_004936479:15,696,063...15,702,311
Ensembl chrNW_004936479:15,699,604...15,702,352 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13799
    sensory system disease 5797
      Vision Disorders 217
        blindness 153
          color blindness 10
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 6
            acquired color blindness 0
            blue color blindness 1
            red color blindness 0
            red-green color blindness 0
Path 2
Term Annotations click to browse term
  disease 13799
    disease of anatomical entity 13519
      nervous system disease 11507
        Neurologic Manifestations 8250
          sensory system disease 5797
            eye disease 2632
              Vision Disorders 217
                blindness 153
                  color blindness 10
                    Colorblindness, Partial Tritanomaly 0
                    achromatopsia + 6
                    acquired color blindness 0
                    blue color blindness 1
                    red color blindness 0
                    red-green color blindness 0
paths to the root