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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 40
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Accession:DOID:0080427 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)
Synonyms:exact_synonym: EIEE40
 primary_id: OMIM:617065
 alt_id: RDO:9001475
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early infantile epileptic encephalopathy 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Guf1 GUF1 homolog, GTPase JBrowse link 14 62,609,484 62,628,862 RGD:8554872
RGD:7240710

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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 40 1
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 40 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.