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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:0081023 term browser browse the term
Definition:A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: CACNA2D4-RELATED CONDITION;   RCD4
 primary_id: MESH:C566470
 alt_id: DOID:9003327;   OMIM:610478
 xref: GARD:10650


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 More... NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            retinal cone dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              eye degenerative disease 856
                retinal degeneration 854
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinal cone dystrophy 4 1
paths to the root