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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 7
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Accession:DOID:0111012 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13. (DO)
Synonyms:exact_synonym: CORD7
 primary_id: MESH:C566350
 alt_id: OMIM:603649
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cone-rod dystrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by OMIM:603649
ClinVar Annotator: match by term: Cone-rod dystrophy 7
OMIM
ClinVar
PMID:9634506 PMID:12659814 PMID:23591405 PMID:25741868 PMID:28492532 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Hereditary Eye Diseases 600
          cone-rod dystrophy 64
            cone-rod dystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  cone-rod dystrophy 64
                    cone-rod dystrophy 7 1
paths to the root