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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 14
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Accession:DOID:0110381 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: RP14;   Retinitis Pigmentosa, Juvenile, TULP1-Related
 primary_id: MESH:C563992
 alt_id: OMIM:600132;   RDO:0013099
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 OMIM
ClinVar
PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 PMID:10440267 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        fundus dystrophy 393
          retinitis pigmentosa 315
            retinitis pigmentosa 14 2
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              eye degenerative disease 541
                retinal degeneration 539
                  fundus dystrophy 393
                    retinitis pigmentosa 315
                      retinitis pigmentosa 14 2
paths to the root