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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 WITH PAROXYSMAL DYSKINESIA OR SEIZURES
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Accession:DOID:9007371 term browser browse the term
Definition:An autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay.
Synonyms:exact_synonym: IDDPADS
 pimary_id: OMIM:619150
For additional species annotation, visit the Alliance of Genome Resources.


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ClinVar
OMIM
PMID:25741868 PMID:29392776 PMID:32196122 PMID:32467598 NCBI chr 1:155,823,590...155,915,434 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Neurodevelopmental Disorders 5686
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        central nervous system disease 10374
          brain disease 9732
            disease of mental health 7038
              Neurodevelopmental Disorders 5686
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES 1
paths to the root