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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: OMIM:617113
For additional species annotation, visit the Alliance of Genome Resources.


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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: Epileptic encephalopathy, early infantile, 43 ClinVar
OMIM
PMID:23934111 PMID:25741868 PMID:28492532 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      electroclinical syndrome 699
        developmental and epileptic encephalopathy 529
          developmental and epileptic encephalopathy 43 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            epilepsy 2154
              electroclinical syndrome 699
                neonatal period electroclinical syndrome 536
                  early infantile epileptic encephalopathy 519
                    developmental and epileptic encephalopathy 43 1
paths to the root