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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 49
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Accession:DOID:0080441 term browser browse the term
Definition:A severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. (OMIM)
Synonyms:exact_synonym: EIEE49
 primary_id: OMIM:617281
 alt_id: RDO:9001481
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early infantile epileptic encephalopathy 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd5a DENN domain containing 5A JBrowse link 1 174,524,047 174,588,553 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 49 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 49 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.