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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 45
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Accession:DOID:0080428 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, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)
Synonyms:exact_synonym: DEE45;   EIEE45;   GABRB1-RELATED CONDITION;   early infantile epileptic encephalopathy 45
 primary_id: MIM:617153


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developmental and epileptic encephalopathy 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 | ClinVar Annotator: match by term: GABRB1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23934111 PMID:25741868 PMID:26950270 More... NCBI chr13:43,011,491...43,349,876
Ensembl chr13:42,992,569...43,349,923 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    syndrome 10623
      electroclinical syndrome 1507
        developmental and epileptic encephalopathy 1128
          developmental and epileptic encephalopathy 45 1
Path 2
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
              electroclinical syndrome 1507
                neonatal period electroclinical syndrome 1100
                  early infantile epileptic encephalopathy 1079
                    developmental and epileptic encephalopathy 45 1
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