.
cone-rod dystrophy 2 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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-rod dystrophy 2
go back to main search page
Accession:DOID:0111005 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CORD2;   CRD2;   RCRD2;   retinal cone-rod dystrophy 2
 primary_id: MIM:120970
 alt_id: OMIA:001675
 xref: GARD:6145;   NCI:C162399

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
cone-rod dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Aipl1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chrNW_004624786:7,579,061...7,587,608
Ensembl chrNW_004624786:7,579,098...7,587,608 		JBrowse link
G G AIPL1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr16:5,804,774...5,820,793
Ensembl chr16:5,804,948...5,814,566 		JBrowse link
G P AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr12:50,903,358...50,917,187
Ensembl chr12:50,903,358...50,917,111 		JBrowse link
G S Aipl1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		JBrowse link
G D AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G B AIPL1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868 		JBrowse link
G C Aipl1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chrNW_004955467:11,952,940...11,962,147
Ensembl chrNW_004955467:11,952,495...11,962,153 		JBrowse link
G R Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G M Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G H AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G N Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chrNW_004624832:6,103,530...6,108,129
Ensembl chrNW_004624832:6,104,229...6,108,146 		JBrowse link
G G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 6:41,125,912...41,133,478
Ensembl chr 6:41,126,125...41,132,951 		JBrowse link
G P CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G D CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010 		JBrowse link
G B CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr19:44,828,119...44,856,284 JBrowse link
G C Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chrNW_004955574:1,544,917...1,548,912
Ensembl chrNW_004955574:1,544,917...1,548,912 		JBrowse link
G R Crx cone-rod homeobox ISO
ISS		 ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
OMIM:120970		 OMIM
ClinVar
MouseDO		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G M Crx cone-rod homeobox ISO
IAGP		 ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
OMIM:120970		 OMIM
ClinVar
MouseDO		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G H CRX cone-rod homeobox IAGP
ISS		 ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
OMIM:120970		 ClinVar
MouseDO
OMIM		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G N Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438 		JBrowse link
G G IQCB1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr22:59,025,265...59,097,930
Ensembl chr22:59,025,261...59,098,138 		JBrowse link
G P IQCB1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367 		JBrowse link
G S Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G D IQCB1 IQ motif containing B1 IAGP Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		JBrowse link
G B IQCB1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		JBrowse link
G C Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683 		JBrowse link
G R Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G M Iqcb1 IQ calmodulin-binding motif containing 1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G H IQCB1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G S LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G N Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348 		JBrowse link
G G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr27:34,093,699...34,243,630
Ensembl chr27:34,129,532...34,243,778 		JBrowse link
G P PROM1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		JBrowse link
G S Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		JBrowse link
G D PROM1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009 		JBrowse link
G B PROM1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454 		JBrowse link
G C Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chrNW_004955480:7,955,501...8,059,537
Ensembl chrNW_004955480:7,961,389...8,059,589 		JBrowse link
G R Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G M Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G H PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2		 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G M Rhox2a reproductive homeobox 2A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar NCBI chr  X:36,508,645...36,513,343
Ensembl chr  X:36,508,629...36,513,339 		JBrowse link
G B TPRX2 tetrapeptide repeat homeobox 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar
G H TPRX2 tetrapeptide repeat homeobox 2 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar NCBI chr19:47,859,235...47,861,721
Ensembl chr19:47,859,235...47,861,721 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        fundus dystrophy 8066
          retinitis pigmentosa 6267
            cone-rod dystrophy 2 43
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              retinal disease 15895
                retinal degeneration 9924
                  fundus dystrophy 8066
                    cone-rod dystrophy 1176
                      cone-rod dystrophy 2 43
paths to the root