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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
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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 (GEF) 9 JBrowse link X 95,048,930 95,196,853 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13272
    disease of anatomical entity 12755
      nervous system disease 10288
        central nervous system disease 8605
          hyperekplexia 8
            early infantile epileptic encephalopathy 8 1
Path 2
Term Annotations click to browse term
  disease 13272
    disease of anatomical entity 12755
      nervous system disease 10288
        central nervous system disease 8605
          brain disease 7906
            epilepsy 1325
              electroclinical syndrome 381
                neonatal period electroclinical syndrome 253
                  early infantile epileptic encephalopathy 244
                    early infantile epileptic encephalopathy 8 1
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