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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 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        Developmental Disabilities 679
          EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.