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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 and Hearing Loss
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Accession:DOID:9000732 term browser browse the term
Synonyms:exact_synonym: CRDHL
 xref: OMIM:PS617236
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 ClinVar
OMIM
PMID:16199547 PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 More... NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar
PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 More... NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    sensory system disease 5712
      eye disease 2800
        Hereditary Eye Diseases 639
          cone-rod dystrophy 83
            Cone-Rod Dystrophy and Hearing Loss 2
              Cone-Rod Dystrophy and Hearing Loss 1 1
              Cone-Rod Dystrophy and Hearing Loss 2 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          neurodegenerative disease 3536
            eye degenerative disease 514
              retinal degeneration 512
                fundus dystrophy 380
                  cone-rod dystrophy 83
                    Cone-Rod Dystrophy and Hearing Loss 2
                      Cone-Rod Dystrophy and Hearing Loss 1 1
                      Cone-Rod Dystrophy and Hearing Loss 2 1
paths to the root