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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: MIM:616502;   MONDO:0014669


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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 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 19099
    sensory system disease 7326
      eye disease 3695
        Hereditary Eye Diseases 1118
          cone-rod dystrophy 108
            cone-rod dystrophy 21 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              eye degenerative disease 856
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 108
                      cone-rod dystrophy 21 1
paths to the root