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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 15
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Accession:DOID:0080414 term browser browse the term
Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: DEE15;   EIEE15;   early infantile epileptic encephalopathy 15
 narrow_synonym: epilepsy due to perinatal stroke
 primary_id: OMIM:615006
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Epilepsy due to perinatal stroke
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15
OMIM
ClinVar
PMID:18414213 PMID:23252400 PMID:25741868 PMID:28492532 PMID:30089820 PMID:31584066 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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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 15 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 15 1
paths to the root