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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 88
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Accession:DOID:0112145 term browser browse the term
Definition:A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in RP1L1 on chromosome 8p23.1. (DO)
Synonyms:exact_synonym: RP88
 primary_id: OMIM:618826
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 88 ClinVar
OMIM
PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 PMID:25741868 PMID:25908487 PMID:26782618 PMID:27623337 PMID:30025130 PMID:31236346 PMID:31833436 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        fundus dystrophy 333
          retinitis pigmentosa 267
            retinitis pigmentosa 88 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            retinal disease 777
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 267
                    retinitis pigmentosa 88 1
paths to the root