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

ONTOLOGY REPORT - ANNOTATIONS


Term:color blindness
go back to main search page
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;   ICD10CM:H53.50;   ICD9CM:368.5;   NCI:C3891
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655850
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:734792
RGD:11554173
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:1600870
RGD:11554173
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:1599034
RGD:11554173
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:11554173
achromatopsia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
RGD:13592920
Achromatopsia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:9068452
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:9068446
RGD:8554872
RGD:9068450
achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872
achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872
Achromatopsia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
achromatopsia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872
blue color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1sw opsin 1, short wave sensitive JBrowse link 4 56,653,840 56,656,980 RGD:7240710
RGD:8554872
blue cone monochromacy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
red-green color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        blindness 86
          color blindness 10
            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 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        Neurologic Manifestations 3903
          Sensation Disorders 953
            Vision Disorders 150
              blindness 86
                color blindness 10
                  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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.