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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 90
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Accession:DOID:0112147 term browser browse the term
Definition:A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)
Synonyms:exact_synonym: RP90
 primary_id: OMIM:619007


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retinitis pigmentosa 90 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa 90 OMIM
ClinVar		 PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:30058936 More... NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      eye disease 3475
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 90 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 90 1
paths to the root