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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 32
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Accession:DOID:0110355 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. (DO)
Synonyms:exact_synonym: RP32
 primary_id: MESH:C563689
 alt_id: OMIM:609913
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 32 OMIM
ClinVar
PMID:16189710 PMID:30157172 NCBI chr 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 32 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 32 1
paths to the root