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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:INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
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Accession:DOID:9001917 term browser browse the term
Definition:A disease characterized by mild to moderate intellectual disability and typical features of RP.
Synonyms:exact_synonym: IDDRP
 alt_id: OMIM:618195


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INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28794130 PMID:32214227 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              eye degenerative disease 853
                retinal degeneration 851
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
paths to the root