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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


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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 chr12:47,861,041...47,895,286
Ensembl chr12:47,861,043...47,895,190 		JBrowse link
G TEAD3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar PMID:9462750 PMID:25741868 PMID:26427415 PMID:28492532 PMID:32531858 NCBI chr 7:31,337,890...31,351,452
Ensembl chr 7:31,336,560...31,361,835 		JBrowse link
G TULP1 TUB like protein 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 OMIM
ClinVar		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr 7:31,362,670...31,379,948
Ensembl chr 7:31,361,873...31,379,204 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15278
    sensory system disease 6601
      eye disease 3345
        fundus dystrophy 699
          retinitis pigmentosa 599
            retinitis pigmentosa 14 3
Path 2
Term Annotations click to browse term
  disease 15278
    disease of anatomical entity 14926
      nervous system disease 13022
        Neurologic Manifestations 9491
          sensory system disease 6601
            eye disease 3345
              eye degenerative disease 833
                retinal degeneration 832
                  fundus dystrophy 699
                    retinitis pigmentosa 599
                      retinitis pigmentosa 14 3
paths to the root