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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 11
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Accession:DOID:0111018 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CORD11
 primary_id: MESH:C563671
 alt_id: OMIM:610381


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            cone-rod dystrophy 11 0
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      cone-rod dystrophy 11 0
paths to the root