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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
 primary_id: OMIM:619150


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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29392776 PMID:32196122 PMID:32467598 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Neurodevelopmental Disorders 6794
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              Neurodevelopmental Disorders 6794
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES 1
paths to the root