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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:15215304 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 PMID:32860008 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      electroclinical syndrome 390
        developmental and epileptic encephalopathy 247
          developmental and epileptic encephalopathy 8 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            epilepsy 1506
              electroclinical syndrome 390
                neonatal period electroclinical syndrome 252
                  early infantile epileptic encephalopathy 243
                    developmental and epileptic encephalopathy 8 1
paths to the root