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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:developmental and epileptic encephalopathy 43
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Accession:DOID:0080447 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)
Synonyms:exact_synonym: DEE43;   EIEE43;   early infantile epileptic encephalopathy 43
 primary_id: MIM:617113


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developmental and epileptic encephalopathy 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 ClinVar
OMIM		 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 More... NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      electroclinical syndrome 1510
        developmental and epileptic encephalopathy 1119
          developmental and epileptic encephalopathy 43 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            epilepsy 2995
              electroclinical syndrome 1510
                neonatal period electroclinical syndrome 1089
                  early infantile epileptic encephalopathy 1069
                    developmental and epileptic encephalopathy 43 1
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