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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 3
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Accession:DOID:0080440 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: EIEE3;   neonatal myoclonic epilepsy with suppression-burst pattern
 primary_id: MESH:C562695
 alt_id: OMIM:609304;   RDO:0012296
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early infantile epileptic encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710

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Path 1
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  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        neonatal period electroclinical syndrome 190
          early myoclonic encephalopathy 5
            early infantile epileptic encephalopathy 3 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 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.