ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 9
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Accession:DOID:0060848 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)
Synonyms:exact_synonym: EFMR;   EIEE9;   Juberg-Hellman syndrome;   convulsive disorder and mental retardation;   early infantile female-limited epilecptic encephalopathy;   female-restricted epilepsy with mental retardation
 primary_id: MESH:C564715
 alt_id: OMIM:300088;   RDO:0013583
 xref: GARD:10806;   ORDO:101039
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early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872

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Path 1
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  disease 14919
    Developmental Diseases 7761
      Neurodevelopmental Disorders 2766
        intellectual disability 1594
          early infantile epileptic encephalopathy 9 4
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        central nervous system disease 6945
          brain disease 6451
            epilepsy 1021
              electroclinical syndrome 284
                infancy electroclinical syndrome 153
                  West syndrome 153
                    Infantile or Early Childhood Epileptic Encephalopathy 130
                      early infantile epileptic encephalopathy 127
                        early infantile epileptic encephalopathy 9 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.