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ONTOLOGY REPORT - ANNOTATIONS


Term:achromatopsia
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Accession:DOID:13911 term browser browse the term
Definition:A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: ACHM;   monochromatism
 primary_id: RDO:9004252
 xref: ICD10CM:H53.51;   ICD9CM:368.54;   NCI:C84528;   ORDO:49382
For additional species annotation, visit the Alliance of Genome Resources.


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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 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

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
            achromatopsia 7
              Achromatopsia 1 2
              Achromatopsia 5 1
              Achromatopsia Incomplete, X-Linked 0
              achromatopsia 2 1
              achromatopsia 3 1
              achromatopsia 4 1
              achromatopsia 7 1
              blue cone monochromacy 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
                  achromatopsia 7
                    Achromatopsia 1 2
                    Achromatopsia 5 1
                    Achromatopsia Incomplete, X-Linked 0
                    achromatopsia 2 1
                    achromatopsia 3 1
                    achromatopsia 4 1
                    achromatopsia 7 1
                    blue cone monochromacy 1
paths to the root

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