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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:early-onset epilepsy 2
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Accession:DOID:0070471 term browser browse the term
Definition:An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: EPEDD;   EPEO2;   EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
 broad_synonym: SETD1A-RELATED CONDITION
 primary_id: OMIM:618832
 alt_id: DOID:9001558
 xref: EFO:0010739


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early-onset epilepsy 2 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 OMIM
ClinVar		 PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 More... NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Neurodevelopmental Disorders 6845
        Developmental Disabilities 775
          early-onset epilepsy 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              Neurodevelopmental Disorders 6845
                Developmental Disabilities 775
                  early-onset epilepsy 2 1
paths to the root