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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 66
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Accession:DOID:0080446 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: EIEE66
 primary_id: OMIM:618067
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early infantile epileptic encephalopathy 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pacs2 phosphofurin acidic cluster sorting protein 2 JBrowse link 6 137,824,136 137,889,144 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 66 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          early infantile epileptic encephalopathy 66 1
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