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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 55
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Accession:DOID:0110370 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. (DO)
Synonyms:exact_synonym: RP55
 primary_id: OMIM:613575


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retinitis pigmentosa 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6 ADP ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 55 OMIM
ClinVar		 PMID:15258860 PMID:17160889 PMID:19858128 PMID:19956407 PMID:20142850 More... NCBI chr 3:94,832,577...94,870,531
Ensembl chr 3:101,519,718...101,556,419 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        Hereditary Eye Diseases 1081
          retinitis pigmentosa 595
            retinitis pigmentosa 55 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              retinal disease 1175
                retinal degeneration 821
                  fundus dystrophy 690
                    retinitis pigmentosa 595
                      retinitis pigmentosa 55 1
paths to the root