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RGD uses the Human Disease Ontology (DO, 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:X-linked cone-rod dystrophy 1
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Accession:DOID:0111008 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: COD1;   CORDX1;   X-linked cone dystrophy 1;   X-linked cone-rod dystrophy, type 1
 primary_id: MESH:C564438;   MESH:C564439
 alt_id: OMIM:304020;   RDO:0008670;   RDO:0013402;   RDO:0013403
For additional species annotation, visit the Alliance of Genome Resources.

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X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO DNA:deletions, insertion, snp:cds:multiple (human)
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)
ClinVar Annotator: match by term: Cone-rod dystrophy, X-linked 1
PMID:11857109 PMID:11875055 PMID:15914600, PMID:11857109, PMID:11875055, PMID:20007830 RGD:8553225, RGD:8553227, RGD:8553232 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        Hereditary Eye Diseases 575
          cone-rod dystrophy 59
            X-linked cone-rod dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            eye degenerative disease 467
              retinal degeneration 465
                fundus dystrophy 334
                  cone-rod dystrophy 59
                    X-linked cone-rod dystrophy 1 1
paths to the root