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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 21
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Accession:DOID:9005737 term browser browse the term
Synonyms:exact_synonym: CORD21
 broad_synonym: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT
 primary_id: OMIM:616502

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Cone-Rod Dystrophy 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar		 PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 PMID:35806404 NCBI chrNW_004955435:14,664,292...14,704,198
Ensembl chrNW_004955435:14,664,292...14,704,194 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      eye disease 3164
        fundus dystrophy 660
          retinitis pigmentosa 569
            Cone-Rod Dystrophy 21 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            eye disease 3164
              retinal disease 1107
                retinal degeneration 781
                  fundus dystrophy 660
                    cone-rod dystrophy 92
                      Cone-Rod Dystrophy 21 1
paths to the root