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 93
go back to main search page
Accession:DOID:0112275 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31. (DO)
Synonyms:exact_synonym: DEE93;   IECEE3;   infantile or early childhood epileptic encephalopathy 3
 primary_id: OMIM:618012
 alt_id: DOID:9008555
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
developmental and epileptic encephalopathy 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood 3
ClinVar
OMIM
PMID:23334411 PMID:25741868 PMID:29668857 NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
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 93 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
              Generalized Epilepsy 280
                idiopathic generalized epilepsy 153
                  childhood onset epileptic encephalopathy 19
                    developmental and epileptic encephalopathy 93 1
paths to the root