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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 20
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Accession:DOID:0111026 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: CORD 20;   CORD20
 primary_id: OMIM:615973;   RDO:9001410
For additional species annotation, visit the Alliance of Genome Resources.


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cone-rod dystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 ClinVar PMID:25741868 NCBI chr 7:41,305,437...41,309,621 JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 OMIM
ClinVar
PMID:24945461 PMID:25018096 PMID:25044745 PMID:25741868 PMID:28492532 NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
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 20 2
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 20 2
paths to the root