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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
 broad_synonym: X-LINKED CONE-ROD DYSTROPHY
 primary_id: MESH:C564507
 alt_id: MIM:300476;   RDO:0013449


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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 DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3		 OMIM
CTD
ClinVar
RGD		 PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 More... RGD:13782380 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        fundus dystrophy 703
          retinitis pigmentosa 601
            X-linked cone-rod dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              retinal disease 1401
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 108
                      X-linked cone-rod dystrophy 3 1
paths to the root