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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:Retinal Cone Dystrophy 4
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Accession:DOID:9003327 term browser browse the term
Synonyms:exact_synonym: RCD4
 primary_id: MESH:C566470;   RDO:0014814
 alt_id: OMIM:610478
For additional species annotation, visit the Alliance of Genome Resources.


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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: Retinal cone dystrophy 4 OMIM
ClinVar
PMID:17033974 PMID:24033266 PMID:25741868 PMID:26002053 PMID:26218913 PMID:26560832 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        Hereditary Eye Diseases 600
          retinitis pigmentosa 279
            Retinal Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            eye degenerative disease 480
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Retinal Cone Dystrophy 4 1
paths to the root