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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


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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:11439943 PMID:18437043 PMID:19344873 PMID:25741868 PMID:28492532 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52		 OMIM
CTD
ClinVar		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:86,353,917...86,363,820
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 18969
    syndrome 10888
      electroclinical syndrome 1356
        developmental and epileptic encephalopathy 981
          developmental and epileptic encephalopathy 52 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              electroclinical syndrome 1356
                neonatal period electroclinical syndrome 951
                  early infantile epileptic encephalopathy 930
                    developmental and epileptic encephalopathy 52 2
paths to the root