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ONTOLOGY REPORT - ANNOTATIONS
Term:early infantile epileptic encephalopathy 8
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Accession:DOID:0080215 term browser browse the term
Definition:An early infantile 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: EIEE8;   Hyperekplexia and Epilepsy
 primary_id: MESH:C564474
 alt_id: OMIM:300607;   RDO:0013422
For additional species annotation, visit the Alliance of Genome Resources.

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early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          hyperekplexia 9
            early infantile epileptic encephalopathy 8 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            epilepsy 1099
              electroclinical syndrome 342
                neonatal period electroclinical syndrome 194
                  early infantile epileptic encephalopathy 185
                    early infantile epileptic encephalopathy 8 1
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