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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 84
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Accession:DOID:0112141 term browser browse the term
Definition:A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2. (DO)
Synonyms:exact_synonym: RP84
 primary_id: OMIM:618220
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 84 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 84 OMIM
ClinVar
PMID:24737827 PMID:25741868 PMID:28492532 PMID:30208423 NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140
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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
        fundus dystrophy 385
          retinitis pigmentosa 310
            retinitis pigmentosa 84 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 84 1
paths to the root