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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 78
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Accession:DOID:0061113 term browser browse the term
Definition:A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: RP78
 broad_synonym: ARHGEF18-related condition
 alt_id: DOID:9003675
 xref: MIM:617433;   MONDO:0044314


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retinitis pigmentosa 78 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: ARHGEF18-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 78 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        fundus dystrophy 788
          retinitis pigmentosa 611
            retinitis pigmentosa 78 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              eye degenerative disease 934
                retinal degeneration 932
                  fundus dystrophy 788
                    retinitis pigmentosa 611
                      retinitis pigmentosa 78 1
paths to the root