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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 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        Neurologic Manifestations 3573
          visual epilepsy 643
            childhood onset epileptic encephalopathy 186
              Infantile or Early Childhood Epileptic Encephalopathy 182
                Infantile or Early Childhood Epileptic Encephalopathy 3 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              visual pathway disease 645
                visual cortex disease 643
                  visual epilepsy 643
                    childhood onset epileptic encephalopathy 186
                      Infantile or Early Childhood Epileptic Encephalopathy 182
                        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.