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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 1
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Accession:DOID:0110390 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: RP1
 primary_id: MESH:C538365
 alt_id: OMIM:180100
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by OMIM:180100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa 1
OMIM
ClinVar
PMID:1783394 PMID:8931712 PMID:10391211 PMID:10391212 PMID:10401003 PMID:10465120 PMID:10845615 PMID:11527933 PMID:15863674 PMID:15994872 PMID:19933189 PMID:21147909 PMID:22317909 PMID:24265693 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29425069 PMID:29847639 PMID:30027431 PMID:30054919 PMID:30718709 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        Hereditary Eye Diseases 582
          retinitis pigmentosa 270
            retinitis pigmentosa 1 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            retinal disease 786
              retinal degeneration 470
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    retinitis pigmentosa 1 1
paths to the root