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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 3
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Accession:DOID:0070472 term browser browse the term
Definition:An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: EPEO3;   early-onset epilepsy-3 with or without developmental delay
 narrow_synonym: EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY
 primary_id: MIM:620465
 alt_id: DOID:9006144


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early-onset epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Epilepsy, early-onset, 3, with or without developmental delay OMIM
ClinVar		 PMID:25741868 PMID:33190975 PMID:35600075 PMID:36074901 PMID:37161035 NCBI chr 6:38,519,869...38,525,217
Ensembl chr 6:38,520,765...38,525,062 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            epilepsy 2903
              early-onset epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 15757
    Developmental Disease 13766
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12845
        genetic disease 12543
          monogenic disease 10726
            autosomal genetic disease 10265
              autosomal dominant disease 6689
                early-onset epilepsy 3 1
paths to the root