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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 53
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Accession:DOID:0080464 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: DEE53;   EIEE53;   early infantile epileptic encephalopathy 53
 primary_id: MIM:617389


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developmental and epileptic encephalopathy 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53 OMIM
ClinVar		 PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25741868 More... NCBI chr11:30,192,629...30,269,447
Ensembl chr11:30,192,629...30,269,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      electroclinical syndrome 1510
        developmental and epileptic encephalopathy 1119
          developmental and epileptic encephalopathy 53 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            epilepsy 2995
              electroclinical syndrome 1510
                neonatal period electroclinical syndrome 1089
                  early infantile epileptic encephalopathy 1069
                    developmental and epileptic encephalopathy 53 1
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