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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 4
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Accession:DOID:0080436 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (DO)
Synonyms:exact_synonym: EIEE4
 broad_synonym: STXBP1-associated neurodevelopmental disorder
 primary_id: MESH:C567404
 alt_id: OMIM:612164;   RDO:0015482
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early infantile epileptic encephalopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Niban2 niban apoptosis regulator 2 JBrowse link 3 11,921,715 11,971,327 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:7240710
RGD:8554872
RGD:11068998
RGD:12903960

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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      electroclinical syndrome 336
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 4 3
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              visual pathway disease 654
                visual cortex disease 652
                  visual epilepsy 652
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          early infantile epileptic encephalopathy 4 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.