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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 33
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Accession:DOID:0080463 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: EIEE33
 primary_id: OMIM:616409
 alt_id: DOID:9001525;   RDO:9001309
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early infantile epileptic encephalopathy 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Ptk6 protein tyrosine kinase 6 JBrowse link 3 176,698,305 176,706,896 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      electroclinical syndrome 328
        neonatal period electroclinical syndrome 187
          early infantile epileptic encephalopathy 178
            early infantile epileptic encephalopathy 33 5
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 33 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.