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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 8
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Accession:DOID:0080215 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)
Synonyms:exact_synonym: DEE8;   EIEE8;   early infantile epileptic encephalopathy 8;   hyperekplexia and epilepsy
 primary_id: MESH:C564474
 alt_id: OMIM:300607
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by OMIM:300607
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8		 OMIM
ClinVar		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:17576681 PMID:17893116 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      electroclinical syndrome 704
        developmental and epileptic encephalopathy 532
          developmental and epileptic encephalopathy 8 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            epilepsy 2166
              electroclinical syndrome 704
                neonatal period electroclinical syndrome 539
                  early infantile epileptic encephalopathy 521
                    developmental and epileptic encephalopathy 8 1
paths to the root