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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 12
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Accession:DOID:0111019 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)
Synonyms:exact_synonym: CORD12
 primary_id: MESH:C567206
 alt_id: OMIM:612657


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        Hereditary Eye Diseases 1131
          cone-rod dystrophy 122
            cone-rod dystrophy 12 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal degeneration 858
                  fundus dystrophy 722
                    cone-rod dystrophy 122
                      cone-rod dystrophy 12 2
paths to the root