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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 23
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Accession:DOID:0080415 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: EIEE23;   early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome;   epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
 primary_id: OMIM:615859
 alt_id: RDO:9001063
 xref: ORDO:411986
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early infantile epileptic encephalopathy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      electroclinical syndrome 336
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 23 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              visual pathway disease 654
                visual cortex disease 652
                  visual epilepsy 652
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          early infantile epileptic encephalopathy 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.