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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Epileptic encephalopathy, early infantile, 3
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
Ensembl chr 1:214,410,417...214,414,897
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            movement disease 1237
              Dyskinesias 906
                Myoclonus 123
                  Myoclonic Epilepsies 118
                    early myoclonic encephalopathy 5
                      developmental and epileptic encephalopathy 3 1
paths to the root