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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340
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 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO 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 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD
RGD
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 Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 PMID:12077706 RGD:1599034 NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863
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 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340
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 chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:25741868 NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime IAGP
ISO
ClinVar Annotator: match by term: Achromatopsia MouseDO
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr19:38,121,229...38,172,403
Ensembl chr19:38,121,229...38,172,406
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) RGD PMID:18521937 RGD:9068452 NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
DNA:deletion: :c.1148delC (human) RGD 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 Cnga3 cyclic nucleotide gated channel alpha 3 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465
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
IAGP
ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
OMIM
ClinVar
MouseDO
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... 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 G protein subunit alpha transducin 2 ISO
IAGP
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748
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:16199547 PMID:19615668 PMID:19887631 PMID:20301591 PMID:23776498 More... NCBI chr19:38,121,229...38,172,403
Ensembl chr19:38,121,229...38,172,406
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
IAGP
ClinVar Annotator: match by term: Achromatopsia 7
OMIM:616517
OMIM
ClinVar
MouseDO
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340
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: Blue color blindness OMIM
ClinVar
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 More... NCBI chr 6:29,376,670...29,380,512
Ensembl chr 6:29,376,670...29,388,467
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107963956 green (M) opsin gene upstream regulatory region ISO ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:73,166,107...73,171,117 JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) IAGP
ISO
OMIM:303700
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
MouseDO
ClinVar
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
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 (cone pigments), medium-wave-sensitive (color blindness, deutan) 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:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15339
    sensory system disease 6287
      Vision Disorders 275
        blindness 209
          color blindness 12
            Colorblindness, Partial Tritanomaly 0
            achromatopsia + 8
            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 15339
    disease of anatomical entity 14979
      nervous system disease 12625
        Neurologic Manifestations 8986
          sensory system disease 6287
            eye disease 2867
              Vision Disorders 275
                blindness 209
                  color blindness 12
                    Colorblindness, Partial Tritanomaly 0
                    achromatopsia + 8
                    acquired color blindness 0
                    blue color blindness 1
                    red color blindness 0
                    red-green color blindness 1
paths to the root