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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:28794130 PMID:32214227 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            eye degenerative disease 511
              retinal degeneration 509
                fundus dystrophy 378
                  retinitis pigmentosa 306
                    INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
paths to the root