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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 76
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Accession:DOID:9001993 term browser browse the term
Synonyms:exact_synonym: RP76
 primary_id: OMIM:617123


show annotations for term's descendants           Sort by:
Retinitis Pigmentosa 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 76		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 76 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        Hereditary Eye Diseases 1131
          retinitis pigmentosa 623
            Retinitis Pigmentosa 76 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal degeneration 858
                  fundus dystrophy 722
                    retinitis pigmentosa 623
                      Retinitis Pigmentosa 76 2
paths to the root