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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
Term Annotations click to browse term
  disease 15590
    Nutritional and Metabolic Diseases 4361
      disease of metabolism 4361
        mitochondrial metabolism disease 307
          early infantile epileptic encephalopathy 39 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 39 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.