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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 16023
    sensory system disease 5231
      eye disease 2664
        fundus dystrophy 339
          retinitis pigmentosa 270
            retinitis pigmentosa 14 2
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 14 2
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.