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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 Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 ClinVar PMID:19344873 PMID:25741868 PMID:28492532 PMID:29165669 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 OMIM
ClinVar
PMID:19710327 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 More... NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      electroclinical syndrome 925
        developmental and epileptic encephalopathy 738
          developmental and epileptic encephalopathy 52 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            epilepsy 2588
              electroclinical syndrome 925
                neonatal period electroclinical syndrome 737
                  early infantile epileptic encephalopathy 717
                    developmental and epileptic encephalopathy 52 2
paths to the root