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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 1
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Accession:DOID:0111009 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. (DO)
Synonyms:exact_synonym: CORD1;   CRD1
 primary_id: MESH:C563469
 alt_id: OMIA:001674;   OMIM:600624
 xref: GARD:10651


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cone-rod dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO Retinal atrophy - Cone-rod dystrophy 1 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:30050836 PMID:38028226 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    sensory system disease 6948
      eye disease 3480
        fundus dystrophy 699
          retinitis pigmentosa 600
            cone-rod dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            eye disease 3480
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    cone-rod dystrophy 106
                      cone-rod dystrophy 1 1
paths to the root