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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 chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by OMIM:600132
ClinVar Annotator: match by term: Retinitis pigmentosa 14
OMIM
ClinVar
PMID:9462750 PMID:9462751 PMID:10440267 PMID:15024725 PMID:15557452 PMID:17620573 PMID:18055821 PMID:18936139 PMID:23105016 PMID:25342276 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30054919 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 14 2
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 14 2
paths to the root