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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 the DHX38 gene on chromosome 16q22.2. (DO)
Synonyms:exact_synonym: RP84
 primary_id: MIM:618220

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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 chrNW_004955484:4,752,834...4,770,843
Ensembl chrNW_004955484:4,752,834...4,770,843 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14197
    sensory system disease 6250
      eye disease 3185
        fundus dystrophy 665
          retinitis pigmentosa 570
            retinitis pigmentosa 84 1
Path 2
Term Annotations click to browse term
  disease 14197
    disease of anatomical entity 13866
      nervous system disease 12143
        Neurologic Manifestations 8911
          sensory system disease 6250
            eye disease 3185
              eye degenerative disease 790
                retinal degeneration 789
                  fundus dystrophy 665
                    retinitis pigmentosa 570
                      retinitis pigmentosa 84 1
paths to the root