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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 41
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Accession:DOID:0110376 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)
Synonyms:exact_synonym: RP41;   Retinal Degeneration, Autosomal Recessive, Prominin-Related
 primary_id: MESH:C567422
 alt_id: OMIM:612095;   RDO:0015496
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 41 OMIM
ClinVar
PMID:10205271 PMID:10587575 PMID:16199547 PMID:17605048 PMID:19718270 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      eye disease 3185
        fundus dystrophy 387
          retinitis pigmentosa 312
            retinitis pigmentosa 41 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          eye disease 3185
            retinal disease 866
              retinal degeneration 527
                fundus dystrophy 387
                  retinitis pigmentosa 312
                    retinitis pigmentosa 41 1
paths to the root