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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-rod dystrophy 6
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Accession:DOID:0111011 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: CORD6;   Cone degeneration, autosomal dominant progressive;   RCD2;   retinal cone dystrophy 2
 primary_id: MESH:C538363;   RDO:0004335
 alt_id: OMIM:601777
 xref: GARD:10656
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cone-rod dystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:15024725 PMID:15111605 PMID:15175914 PMID:16123401 PMID:16505055 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21602930 PMID:22025579 PMID:22695961 PMID:23035049 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26355662 PMID:26626312 PMID:27375279 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28838317 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29559409 PMID:30718709 PMID:33546218 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Hereditary Eye Diseases 600
          cone-rod dystrophy 64
            cone-rod dystrophy 6 7
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  cone-rod dystrophy 64
                    cone-rod dystrophy 6 7
paths to the root