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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:0081447 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: CORD21
 broad_synonym: RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT
 alt_id: DOID:9005737
 xref: MONDO:0014669;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cone-rod dystrophy 21		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 PMID:35806404 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          cone-rod dystrophy 106
            cone-rod dystrophy 21 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      cone-rod dystrophy 21 1
paths to the root