Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 8
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        hyperekplexia 7
          early infantile epileptic encephalopathy 8 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          eye and adnexa disease 2236
            eye disease 2236
              visual pathway disease 644
                visual cortex disease 642
                  visual epilepsy 642
                    childhood onset epileptic encephalopathy 185
                      Infantile or Early Childhood Epileptic Encephalopathy 181
                        early infantile epileptic encephalopathy 178
                          early infantile epileptic encephalopathy 8 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.