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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 47
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Accession:DOID:0080425 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: EIEE47
 primary_id: OMIM:617166
 alt_id: RDO:9001288
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early infantile epileptic encephalopathy 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf12 fibroblast growth factor 12 JBrowse link 11 75,606,360 76,171,078 RGD:8554872
RGD:7240710

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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 47 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 47 1
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