ONTOLOGY REPORT - ANNOTATIONS


Term:cone-rod dystrophy
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Accession:DOID:0050572 term browser browse the term
Definition:Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.
Synonyms:exact_synonym: CORD;   CRD;   Cone-Rod Dystrophies;   cone rod degenerations;   cone rod retinal dystrophy;   cone-rod degeneration;   cone-rod retinal dystrophies
 primary_id: MESH:D000071700
 alt_id: RDO:0016067;   RDO:9001945
 xref: GARD:10790;   OMIM:PS120970;   ORDO:1872
For additional species annotation, visit the Alliance of Genome Resources.


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cone-rod 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 Acbd5 acyl-CoA binding domain containing 5 JBrowse link 17 89,882,465 89,923,982 RGD:8554872
G Bbs5 Bardet-Biedl syndrome 5 JBrowse link 3 55,886,695 55,907,717 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 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
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 alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:13451130
G Fam161a FAM161 centrosomal protein A JBrowse link 14 107,785,029 107,803,765 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 Mall mal, T-cell differentiation protein-like JBrowse link 3 120,272,583 120,307,090 RGD:8554872
G Mir103a2 microRNA 103a-2 JBrowse link 3 123,833,671 123,833,756 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 Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
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
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:8554872
G Scaper S-phase cyclin A-associated protein in the ER JBrowse link 8 60,127,039 60,593,568 RGD:8554872
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 119,640,324 119,669,651 RGD:8554872
G Unc119 unc-119 lipid binding chaperone JBrowse link 10 65,606,919 65,612,324 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
cone-rod dystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sema4a semaphorin 4A JBrowse link 2 187,799,568 187,823,014 RGD:7240710
RGD:8554872
cone-rod dystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:7240710
RGD:8554872
cone-rod dystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:7240710
RGD:8554872
cone-rod dystrophy 14 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:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:7240710
RGD:8554872
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 245,396,880 245,475,011 RGD:8554872
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:8554872
cone-rod dystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdhr1 cadherin-related family member 1 JBrowse link 16 14,328,161 14,348,049 RGD:7240710
RGD:8554872
cone-rod dystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 JBrowse link 5
5
24,145,829
23,358,464
24,165,467
23,377,697
RGD:7240710
RGD:8554872
cone-rod dystrophy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab28 RAB28, member RAS oncogene family JBrowse link 14 73,888,968 73,963,209 RGD:7240710
RGD:8554872
cone-rod dystrophy 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttll5 tubulin tyrosine ligase like 5 JBrowse link 6 109,693,915 109,910,479 RGD:7240710
RGD:8554872
cone-rod dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crx cone-rod homeobox JBrowse link 1 77,744,593 77,758,913 RGD:7240710
RGD:8554872
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
cone-rod dystrophy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1b POC1 centriolar protein B JBrowse link 7 41,304,119 41,404,360 RGD:7240710
RGD:8554872
cone-rod dystrophy 3 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:7240710
RGD:8554872
cone-rod dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:7240710
RGD:8554872
cone-rod dystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
cone-rod dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rims1 regulating synaptic membrane exocytosis 1 JBrowse link 9 28,440,408 28,973,246 RGD:7240710
RGD:8554872
cone-rod dystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam9 ADAM metallopeptidase domain 9 JBrowse link 16 71,810,377 71,887,926 RGD:7240710
RGD:8554872
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep78 centrosomal protein 78 JBrowse link 1 233,185,815 233,214,876 RGD:8554872
RGD:7240710
Newfoundland cone-rod dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:7240710
RGD:8554872
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8553225
RGD:8554872
RGD:7240710
RGD:8553232
RGD:8553227
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782380

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          Hereditary Eye Diseases 503
            cone-rod dystrophy 47
              Cone-Rod Dystrophy and Hearing Loss + 1
              Newfoundland cone-rod dystrophy 1
              X-linked cone-rod dystrophy 1 1
              X-linked cone-rod dystrophy 2 0
              X-linked cone-rod dystrophy 3 1
              cone-rod dystrophy 1 0
              cone-rod dystrophy 10 1
              cone-rod dystrophy 11 0
              cone-rod dystrophy 12 1
              cone-rod dystrophy 13 1
              cone-rod dystrophy 14 4
              cone-rod dystrophy 15 1
              cone-rod dystrophy 16 1
              cone-rod dystrophy 17 0
              cone-rod dystrophy 18 1
              cone-rod dystrophy 19 1
              cone-rod dystrophy 2 2
              cone-rod dystrophy 20 1
              cone-rod dystrophy 3 1
              cone-rod dystrophy 5 1
              cone-rod dystrophy 6 1
              cone-rod dystrophy 7 1
              cone-rod dystrophy 8 0
              cone-rod dystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  fundus dystrophy 264
                    cone-rod dystrophy 47
                      Cone-Rod Dystrophy and Hearing Loss + 1
                      Newfoundland cone-rod dystrophy 1
                      X-linked cone-rod dystrophy 1 1
                      X-linked cone-rod dystrophy 2 0
                      X-linked cone-rod dystrophy 3 1
                      cone-rod dystrophy 1 0
                      cone-rod dystrophy 10 1
                      cone-rod dystrophy 11 0
                      cone-rod dystrophy 12 1
                      cone-rod dystrophy 13 1
                      cone-rod dystrophy 14 4
                      cone-rod dystrophy 15 1
                      cone-rod dystrophy 16 1
                      cone-rod dystrophy 17 0
                      cone-rod dystrophy 18 1
                      cone-rod dystrophy 19 1
                      cone-rod dystrophy 2 2
                      cone-rod dystrophy 20 1
                      cone-rod dystrophy 3 1
                      cone-rod dystrophy 5 1
                      cone-rod dystrophy 6 1
                      cone-rod dystrophy 7 1
                      cone-rod dystrophy 8 0
                      cone-rod dystrophy 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.