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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 19
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Accession:DOID:0080431 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)
Synonyms:exact_synonym: DEE19;   EIEE19;   early infantile epileptic encephalopathy 19
 primary_id: OMIM:615744
 xref: NCI:C142802


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developmental and epileptic encephalopathy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19		 CTD
ClinVar
OMIM		 PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 More... NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 19 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 19 1
paths to the root