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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 40
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Accession:DOID:0110375 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: RP40;   Rod-cone dysplasia 1;   Rod-cone dysplasia 1a
 broad_synonym: PDE6B-RELATED DISORDER
 primary_id: OMIM:613801
 alt_id: OMIA:000882;   OMIA:001669;   RDO:9000498
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by OMIM:613801
ClinVar Annotator: match by term: Retinitis pigmentosa 40
OMIM
ClinVar
PMID:7599633, PMID:7724547, PMID:8394174, PMID:8595886, PMID:10234513, PMID:12525556, PMID:17267005, PMID:18310263, PMID:18854872, PMID:22334370, PMID:24033266, PMID:25097241, PMID:25741868, PMID:25823529, PMID:26872967, PMID:28041643, PMID:28224992, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        fundus dystrophy 331
          retinitis pigmentosa 264
            retinitis pigmentosa 40 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          eye disease 2592
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    retinitis pigmentosa 40 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.