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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


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developmental and epileptic encephalopathy 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43		 CTD
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 18969
    syndrome 10888
      electroclinical syndrome 1356
        developmental and epileptic encephalopathy 981
          developmental and epileptic encephalopathy 43 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              electroclinical syndrome 1356
                neonatal period electroclinical syndrome 951
                  early infantile epileptic encephalopathy 930
                    developmental and epileptic encephalopathy 43 1
paths to the root