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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 39
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Accession:DOID:0080349 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: AGC1 deficiency;   EIEE39;   aspartate-glutamate carrier 1 deficiency;   epileptic encephalopathy with global cerebral demyelination;   global cerebral hypomyelination;   mitochondrial aspartate-glutamate carrier 1 deficiency
 primary_id: MESH:C567847
 alt_id: DOID:9006574;   OMIM:612949;   RDO:0015758
 xref: ORDO:353217
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early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872

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Path 1
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  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          early infantile epileptic encephalopathy 39 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            epilepsy 1092
              electroclinical syndrome 338
                neonatal period electroclinical syndrome 191
                  early infantile epileptic encephalopathy 182
                    early infantile epileptic encephalopathy 39 1
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