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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 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        Developmental Disabilities 565
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
paths to the root