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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613575
ClinVar Annotator: match by term: Retinitis pigmentosa 55
OMIM
ClinVar
PMID:19858128 PMID:19956407 PMID:21282186 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 55 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 55 1
paths to the root