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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 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 Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar PMID:25741868 NCBI chr 5:137,189,440...137,192,125
Ensembl chr 5:137,189,473...137,192,240
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18
ClinVar Annotator: match by OMIM:615476
OMIM
ClinVar
PMID:23932106 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556953 PMID:29358611 PMID:30359774 PMID:30560016 PMID:30564332 PMID:30818181 PMID:32402703 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      electroclinical syndrome 655
        developmental and epileptic encephalopathy 494
          developmental and epileptic encephalopathy 18 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            epilepsy 1880
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 18 2
paths to the root