Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 79
go back to main search page
Accession:DOID:0112215 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in GABRA5 on chromosome 15q12. (DO)
Synonyms:exact_synonym: DEE79;   EIEE79;   early infantile epileptic encephalopathy 79
 primary_id: OMIM:618559
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
developmental and epileptic encephalopathy 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM
ClinVar
PMID:29961870 PMID:31056671 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
JBrowse link

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 79 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 79 1
paths to the root