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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 46
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Accession:DOID:0110409 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13. (DO)
Synonyms:exact_synonym: RP46;   autosomal recessive retinitis pigmentosa, IDH3B-related
 primary_id: MESH:C567249
 alt_id: OMIM:612572
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by OMIM:612572
ClinVar Annotator: match by term: Retinitis pigmentosa 46
OMIM
ClinVar
PMID:18806796 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
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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 46 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 46 1
paths to the root