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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 3
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Accession:DOID:0111007 term browser browse the term
Definition:A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: CORDX3
 primary_id: MESH:C564507
 alt_id: OMIM:300476;   RDO:0013449
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked cone-rod dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by OMIM:300476
ClinVar Annotator: match by term: Cone-rod dystrophy X-linked 3
DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human)
OMIM
ClinVar
PMID:23776498 PMID:24124559 PMID:25741868 PMID:29127258, PMID:16505158 RGD:13782380 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        Hereditary Eye Diseases 600
          cone-rod dystrophy 64
            X-linked cone-rod dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            eye degenerative disease 480
              retinal degeneration 478
                fundus dystrophy 344
                  cone-rod dystrophy 64
                    X-linked cone-rod dystrophy 3 1
paths to the root