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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:Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
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Accession:DOID:9004658 term browser browse the term
Synonyms:exact_synonym: RCDFRD
 primary_id: MESH:C564829
 alt_id: OMIM:268315

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show annotations for term's descendants           Sort by:
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14498
    syndrome 9537
      Fanconi syndrome 39
        Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 14498
    disease of anatomical entity 14147
      nervous system disease 12367
        Neurologic Manifestations 9055
          sensory system disease 6298
            eye disease 3226
              eye degenerative disease 788
                retinal degeneration 787
                  fundus dystrophy 666
                    cone-rod dystrophy 94
                      Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 1
paths to the root