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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 61
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Accession:DOID:0110373 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: RP61
 primary_id: OMIM:614180;   RDO:9000507
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by OMIM:614180
ClinVar Annotator: match by term: Retinitis pigmentosa 61
OMIM
ClinVar
PMID:11524702 PMID:12145752 PMID:19753315 PMID:21310491 PMID:22681893 PMID:22952768 PMID:23304067 PMID:24033266 PMID:25741868 PMID:26338283 PMID:28492532 PMID:29490346 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 61 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 61 1
paths to the root