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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 40
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Accession:DOID:0080427 term browser browse the term
Definition:A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)
Synonyms:exact_synonym: DEE40;   EIEE40;   early infantile epileptic encephalopathy 40
 primary_id: OMIM:617065


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developmental and epileptic encephalopathy 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guf1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26486472 PMID:28492532 PMID:30945278 NCBI chr14:38,537,953...38,557,331
Ensembl chr14:38,537,953...38,557,331 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 40 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                neonatal period electroclinical syndrome 950
                  early infantile epileptic encephalopathy 929
                    developmental and epileptic encephalopathy 40 1
paths to the root