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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 58
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Accession:DOID:0110362 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: RP58
 primary_id: OMIM:613617;   RDO:0015811
 xref: ICD10CM:H35.5
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 58 OMIM
ClinVar
PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:26,537,707...26,541,051
Ensembl chr 6:26,537,707...26,541,048
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 58 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 58 1
paths to the root