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ONTOLOGY REPORT - ANNOTATIONS


Term:Infantile or Early Childhood Epileptic Encephalopathy 3
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Accession:DOID:9008555 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability.
Synonyms:exact_synonym: IECEE3
 primary_id: OMIM:618012
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Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link NW_004955427 13,868,683 13,922,028 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11242
    disease of anatomical entity 10909
      nervous system disease 8758
        Neurologic Manifestations 3228
          visual epilepsy 606
            childhood onset epileptic encephalopathy 184
              Infantile or Early Childhood Epileptic Encephalopathy 180
                Infantile or Early Childhood Epileptic Encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 11242
    disease of anatomical entity 10909
      nervous system disease 8758
        sensory system disease 4123
          eye and adnexa disease 2038
            eye disease 2038
              visual pathway disease 608
                visual cortex disease 606
                  visual epilepsy 606
                    childhood onset epileptic encephalopathy 184
                      Infantile or Early Childhood Epileptic Encephalopathy 180
                        Infantile or Early Childhood 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.