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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 12
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Accession:DOID:0080459 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)
Synonyms:exact_synonym: EIEE12
 primary_id: OMIM:613722
 alt_id: DOID:9005453;   RDO:0009954
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early infantile epileptic encephalopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:7240710
RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872

Term paths to the root
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 12 2
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 12 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.