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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 IDH3A on chromosome 15q25.1. (DO)
Synonyms:exact_synonym: RP90
 primary_id: OMIM:619007
For additional species annotation, visit the Alliance of Genome Resources.



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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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      eye disease 2765
        fundus dystrophy 379
          retinitis pigmentosa 307
            retinitis pigmentosa 90 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          eye disease 2765
            retinal disease 840
              retinal degeneration 510
                fundus dystrophy 379
                  retinitis pigmentosa 307
                    retinitis pigmentosa 90 1
paths to the root