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RGD uses the Human Disease Ontology (DO, 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 18
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Accession:DOID:0080413 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: DEE18;   EIEE18;   early infantile epileptic encephalopathy 18
 primary_id: OMIM:615476
 xref: GARD:13676
For additional species annotation, visit the Alliance of Genome Resources.

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developmental and epileptic encephalopathy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 OMIM
PMID:9536098 PMID:17576681 PMID:23932106 PMID:25741868 PMID:26467025 More... NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      electroclinical syndrome 924
        developmental and epileptic encephalopathy 737
          developmental and epileptic encephalopathy 18 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            epilepsy 2579
              electroclinical syndrome 924
                neonatal period electroclinical syndrome 736
                  early infantile epileptic encephalopathy 716
                    developmental and epileptic encephalopathy 18 1
paths to the root