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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


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cone-rod dystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 More... NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        fundus dystrophy 703
          retinitis pigmentosa 601
            cone-rod dystrophy 20 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              retinal disease 1221
                retinal degeneration 851
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      cone-rod dystrophy 20 1
paths to the root