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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:retinitis pigmentosa 54
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Accession:DOID:0110364 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: RP54;   Rod-cone dysplasia 4
 broad_synonym: PCARE-RELATED CONDITION
 related_synonym: CONE-ROD DYSTROPHY 23
 primary_id: OMIM:613428
 alt_id: OMIA:001575


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retinitis pigmentosa 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcare photoreceptor cilium actin regulator ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613428
ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54		 OMIM
CTD
MouseDO
ClinVar		 PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 54 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 54 1
paths to the root