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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 1
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Accession:DOID:0110390 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: RP1;   RP1-RELATED RETINAL DYSTROPHY
 primary_id: MESH:C538365
 alt_id: OMIM:180100
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        Hereditary Eye Diseases 755
          retinitis pigmentosa 310
            retinitis pigmentosa 1 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            retinal disease 865
              retinal degeneration 525
                fundus dystrophy 385
                  retinitis pigmentosa 310
                    retinitis pigmentosa 1 1
paths to the root