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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 18
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Accession:DOID:0111024 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. (DO)
Synonyms:exact_synonym: CORD18
 primary_id: OMIM:615374

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cone-rod dystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 18 OMIM
ClinVar		 PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 More... NCBI chrNW_004936477:14,066,063...14,140,310 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      eye disease 3213
        Hereditary Eye Diseases 1042
          cone-rod dystrophy 94
            cone-rod dystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            eye disease 3213
              retinal disease 1118
                retinal degeneration 782
                  fundus dystrophy 662
                    cone-rod dystrophy 94
                      cone-rod dystrophy 18 1
paths to the root