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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;   NEDHELS;   Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
 broad_synonym: DEAF1-RELATED CONDITION;   DEAF1-RELATED DISORDER
 primary_id: MIM:617171


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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: DEAF1-related disorder | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 More... NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        intellectual disability 4384
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              visual pathway disease 199
                visual cortex disease 196
                  visual epilepsy 196
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
paths to the root