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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:EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
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Accession:DOID:9001558 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life.
Synonyms:exact_synonym: EPEDD
 primary_id: OMIM:618832
For additional species annotation, visit the Alliance of Genome Resources.


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EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:25741868 PMID:26974950 PMID:29463886 PMID:31197650 PMID:31595951 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        Developmental Disabilities 519
          EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Developmental Disabilities 519
                  EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY 1
paths to the root