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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 5
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Accession:DOID:0111010 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. (DO)
Synonyms:exact_synonym: CORD5
 primary_id: MESH:C563415;   RDO:0012677
 alt_id: OMIM:600977
For additional species annotation, visit the Alliance of Genome Resources.


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cone-rod dystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 ClinVar NCBI chr10:58,613,588...58,618,524
Ensembl chr10:58,613,674...58,618,514
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 OMIM
ClinVar
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link

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 5 2
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 5 2
paths to the root