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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 52
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Accession:DOID:0080455 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: DEE52;   EIEE52;   early infantile epileptic encephalopathy 52
 primary_id: OMIM:617350
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
ClinVar
OMIM
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22840528 PMID:23148524 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:25253298 PMID:25741868 PMID:26498160 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28341588 PMID:28492532 PMID:28837624 PMID:29758173 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 493
          developmental and epileptic encephalopathy 52 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            epilepsy 1877
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 52 1
paths to the root