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RGD uses the Human Disease Ontology (DO, 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 3
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Accession:DOID:0080440 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: DEE3;   EIEE3;   early infantile epileptic encephalopathy 3;   neonatal myoclonic epilepsy with suppression-burst pattern
 primary_id: MESH:C562695
 alt_id: OMIM:609304

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developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
CTD Direct Evidence: marker/mechanism
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      electroclinical syndrome 1346
        developmental and epileptic encephalopathy 973
          developmental and epileptic encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        central nervous system disease 12338
          brain disease 11567
            movement disease 2563
              Dyskinesias 2179
                Myoclonus 377
                  Myoclonic Epilepsies 370
                    early myoclonic encephalopathy 13
                      developmental and epileptic encephalopathy 3 1
paths to the root