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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: EFO:0009151;   OMIM:PS617236


show annotations for term's descendants           Sort by:
Cone-Rod Dystrophy and Hearing Loss 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 ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		JBrowse link
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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		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: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28492532 More... NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      Hearing Disorders 774
        Hearing Loss 769
          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 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              retinal disease 1183
                retinal degeneration 828
                  fundus dystrophy 698
                    cone-rod dystrophy 106
                      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