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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 36
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Accession:DOID:0080470 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: EIEE36
 narrow_synonym: CDG Is;   CDG1S;   CDGIs;   CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is
 primary_id: OMIM:300884
 alt_id: RDO:9000249
 xref: GARD:12401;   ORDO:324422
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early infantile epileptic encephalopathy 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:7240710
RGD:8554872

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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 36 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 36 1
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