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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: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: MESH:D000077765
 xref: GARD:11897


show annotations for term's descendants           Sort by:
cone dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9054934 PMID:9973280 PMID:10880298 PMID:10958761 PMID:16103129 More... NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,753...123,331,144 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:24697911 NCBI chr17:30,997,477...31,056,307
Ensembl chr17:30,997,479...31,056,312 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:15137946 PMID:17576681 PMID:20498079 PMID:25741868 More... NCBI chr15:75,850,860...75,874,950
Ensembl chr15:75,852,198...75,874,951 		JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr 5:68,805,092...68,899,397
Ensembl chr 5:68,808,378...68,906,249 		JBrowse link
G CDHR1 cadherin related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 More... NCBI chr14:85,429,506...85,455,823
Ensembl chr14:85,429,952...85,455,822 		JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr15:87,029,237...87,159,555
Ensembl chr15:87,029,306...87,159,566 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 More... NCBI chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:18521937 PMID:25741868 PMID:26493561 PMID:28041643 PMID:28492532 More... NCBI chr 3:55,872,607...55,936,516
Ensembl chr 3:55,874,250...55,922,979 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10508521 PMID:11231775 PMID:17128490 PMID:17297678 PMID:18055816 More... NCBI chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31058429 NCBI chr 4:110,512,349...110,523,222
Ensembl chr 4:110,498,707...110,524,072 		JBrowse link
G GUCA1A guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 7:37,282,630...37,296,713
Ensembl chr 7:37,282,700...37,296,717 		JBrowse link
G GUCA1B guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 7:37,297,901...37,311,158
Ensembl chr 7:37,297,908...37,310,170 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:10951519 PMID:11115851 More... NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:21882291 PMID:23885164 More... NCBI chr 1:219,099,858...219,113,194
Ensembl chr 1:219,100,447...219,112,905 		JBrowse link
G LOC100525350 polyprenol reductase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 More... NCBI chr 8:42,024,352...42,049,209 JBrowse link
G MALL mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:46,280,331...46,315,773
Ensembl chr 3:46,280,341...46,315,694 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:29184169 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,316,875...46,377,273 		JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr14:105,010,974...105,122,628
Ensembl chr14:105,050,691...105,122,421 		JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8644804 PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 More... NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr 8:8,870,795...9,125,253
Ensembl chr 8:8,774,790...9,125,240 		JBrowse link
G RGR retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 More... NCBI chr14:85,485,210...85,496,393
Ensembl chr14:85,485,171...85,496,381 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 More... NCBI chr  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928 		JBrowse link
G SAG S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr15:133,704,975...133,741,844
Ensembl chr15:133,705,008...133,741,798 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 MouseDO NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition OMIM
ClinVar		 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr14:105,010,974...105,122,628
Ensembl chr14:105,050,691...105,122,421 		JBrowse link
retinal cone dystrophy 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A OMIM
ClinVar		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532 NCBI chr 5:57,555,448...57,582,324
Ensembl chr 5:57,556,149...57,594,423 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A ClinVar PMID:15629837 NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687 		JBrowse link
retinal cone dystrophy 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram OMIM
ClinVar		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:219,099,858...219,113,194
Ensembl chr 1:219,100,447...219,112,905 		JBrowse link
retinal cone dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 More... NCBI chr 5:68,805,092...68,899,397
Ensembl chr 5:68,808,378...68,906,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        retinal disease 1172
          cone dystrophy 31
            Chromosome 16q12 Duplication Syndrome 0
            Cone Dystrophy 4 1
            X-Linked Cone Dystrophy with Tapetal-like Sheen 0
            retinal cone dystrophy 1 0
            retinal cone dystrophy 3A 2
            retinal cone dystrophy 3B 1
            retinal cone dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            eye disease 3323
              retinal disease 1172
                cone dystrophy 31
                  Chromosome 16q12 Duplication Syndrome 0
                  Cone Dystrophy 4 1
                  X-Linked Cone Dystrophy with Tapetal-like Sheen 0
                  retinal cone dystrophy 1 0
                  retinal cone dystrophy 3A 2
                  retinal cone dystrophy 3B 1
                  retinal cone dystrophy 4 1
paths to the root