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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: OMIM: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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAF1-Related Disorder | ClinVar Annotator: match by term: DEAF1-related condition | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder
OMIM
CTD
ClinVar
PMID:9536098 PMID:11690625 PMID:17576681 PMID:24668509 PMID:24726472 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 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        Developmental Disabilities 775
          Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
Path 2
Term Annotations click to browse term
  disease 21155
    Pathological Conditions, Signs and Symptoms 13316
      Signs and Symptoms 10798
        Neurologic Manifestations 10029
          sensory system disease 6928
            eye disease 3459
              visual pathway disease 345
                visual cortex disease 342
                  visual epilepsy 342
                    Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
paths to the root