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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.


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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 OMIM:612095
ClinVar Annotator: match by term: Retinitis pigmentosa 41
OMIM
ClinVar
PMID:10205271, PMID:10587575, PMID:17605048, PMID:19718270, PMID:24154662, PMID:24516651, PMID:25356976, PMID:25472526, PMID:25741868, PMID:25999674, PMID:26103963, PMID:26872967, PMID:27874104, PMID:28041643, PMID:28492532, PMID:30311386, PMID:31129250 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        fundus dystrophy 331
          retinitis pigmentosa 264
            retinitis pigmentosa 41 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    retinitis pigmentosa 41 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.