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ONTOLOGY REPORT - ANNOTATIONS


Term:cone dystrophy
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Accession:DOID:0050795 term browser browse the term
Definition:A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)
Synonyms:exact_synonym: retinal cone dystrophy
 primary_id: RDO:9004924
 xref: GARD:11897
For additional species annotation, visit the Alliance of Genome Resources.


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cone dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Abhd12 abhydrolase domain containing 12 JBrowse link 3 146,630,298 146,690,375 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
RGD:13592920
G Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:8554872
G Cerkl ceramide kinase-like JBrowse link 3 66,268,835 66,395,615 RGD:8554872
G Cfap410 cilia and flagella associated protein 410 JBrowse link 20 11,417,428 11,424,301 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Guca1b guanylate cyclase activator 1B JBrowse link 9 15,621,083 15,629,017 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:13592920
G Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Mtln mitoregulin JBrowse link 3 120,372,665 120,373,523 RGD:8554872
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 5 166,409,460 166,430,291 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:13592920
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:13592920
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554872
G Rgr retinal G protein coupled receptor JBrowse link 16 14,286,323 14,300,972 RGD:8554872
Cone Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:7240710
RGD:8554872
Retinal Cone Dystrophy 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:7240710
RGD:8554872
Retinal Cone Dystrophy 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:7240710
RGD:8554872
Retinal Cone Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    sensory system disease 4697
      eye and adnexa disease 2257
        eye disease 2257
          retinal disease 715
            cone dystrophy 21
              Cone Dystrophy 4 1
              Retinal Cone Dystrophy 1 0
              Retinal Cone Dystrophy 3A 1
              Retinal Cone Dystrophy 3B 1
              Retinal Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              retinal disease 715
                cone dystrophy 21
                  Cone Dystrophy 4 1
                  Retinal Cone Dystrophy 1 0
                  Retinal Cone Dystrophy 3A 1
                  Retinal Cone Dystrophy 3B 1
                  Retinal Cone Dystrophy 4 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.