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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: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
 broad_synonym: X-LINKED CONE-ROD DYSTROPHY
 primary_id: MESH:C564438;   MESH:C564439
 alt_id: OMIM:304020


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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 Pbx3 PBX homeobox 3 ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy ClinVar NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS		 DNA:deletions, insertion, snp:cds:multiple (human)
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)
CTD Direct Evidence: marker/mechanism
OMIM:304020
ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:8673101 PMID:10482958 PMID:10937588 PMID:11857109 PMID:11875055 More... RGD:8553225, RGD:8553227, RGD:8553232 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            X-linked cone-rod dystrophy 1 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      X-linked cone-rod dystrophy 1 2
paths to the root