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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 2
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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: OMIM:120970
 alt_id: OMIA:001675;   RDO:0007930
 xref: GARD:6145;   NCI:C162399
For additional species annotation, visit the Alliance of Genome Resources.


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 Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:25741868 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by OMIM:120970
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cone-rod dystrophy 2
OMIM
ClinVar
PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:22960069 PMID:23049240 PMID:24265693 PMID:25741868 PMID:26161267 PMID:26355662 PMID:28492532 PMID:29068479 PMID:30543658 PMID:30718709 PMID:31215831 PMID:33546218 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
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:19718270 PMID:24154662 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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 2 3
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 2 3
paths to the root