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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 OMIM:600132
ClinVar Annotator: match by term: Retinitis pigmentosa 14
OMIM
ClinVar
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 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 17289
    sensory system disease 5680
      eye disease 2766
        fundus dystrophy 378
          retinitis pigmentosa 306
            retinitis pigmentosa 14 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            retinal disease 839
              retinal degeneration 509
                fundus dystrophy 378
                  retinitis pigmentosa 306
                    retinitis pigmentosa 14 2
paths to the root