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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:Dyskinesias, Seizures, and Intellectual Developmental Disorder
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Accession:DOID:9007457 term browser browse the term
Synonyms:exact_synonym: DYSEIDD;   dyskinesia, seizures, and intellectual developmental disorder
 primary_id: OMIM:617171
 alt_id: RDO:9001435
For additional species annotation, visit the Alliance of Genome Resources.


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Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 PMID:26834045 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        Developmental Disabilities 504
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
paths to the root