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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 45
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Accession:DOID:0110402 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: RP45
 primary_id: OMIM:613767
 alt_id: OMIA:000830;   RDO:9000501
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by OMIM:613767
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Retinitis pigmentosa 45
OMIM
ClinVar
PMID:11379879, PMID:15557452, PMID:21987686, PMID:23661369, PMID:24043777, PMID:24938718, PMID:25741868, PMID:25943428, PMID:25999674, PMID:28041643, PMID:28492532 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 45 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            retinal disease 783
              retinal degeneration 468
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 45 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.