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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 68
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Accession:DOID:0110374 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: RP68
 primary_id: OMIM:615725
 alt_id: RDO:9001041
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by OMIM:615725
ClinVar Annotator: match by term: Retinitis pigmentosa 68
OMIM
ClinVar
PMID:24670872 PMID:25741868 PMID:28492532 NCBI chr 2:115,678,344...115,788,688
Ensembl chr 2:115,678,344...115,788,687
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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 68 1
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 68 1
paths to the root