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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 48
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Accession:DOID:0080448 term browser browse the term
Definition:A severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. (OMIM)
Synonyms:exact_synonym: EIEE48
 primary_id: OMIM:617276
 alt_id: RDO:9001480
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early infantile epileptic encephalopathy 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b2 adaptor related protein complex 3 subunit beta 2 JBrowse link 1 143,284,041 143,315,846 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      electroclinical syndrome 333
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 48 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          eye and adnexa disease 2253
            eye disease 2253
              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 48 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.