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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;   SZT2-RELATED CONDITION;   early infantile epileptic encephalopathy 18
 primary_id: OMIM:615476
 xref: GARD:13676


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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 Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Hyi hydroxypyruvate isomerase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 ClinVar PMID:25741868 NCBI chr 5:131,894,575...131,897,709
Ensembl chr 5:131,894,598...131,897,251 		JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 | ClinVar Annotator: match by term: SZT2-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23932106 PMID:25741868 More... NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        developmental and epileptic encephalopathy 982
          developmental and epileptic encephalopathy 18 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              electroclinical syndrome 1357
                neonatal period electroclinical syndrome 952
                  early infantile epileptic encephalopathy 931
                    developmental and epileptic encephalopathy 18 3
paths to the root