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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          early infantile epileptic encephalopathy 9 4
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          eye and adnexa disease 2236
            eye disease 2236
              visual pathway disease 644
                visual cortex disease 642
                  visual epilepsy 642
                    childhood onset epileptic encephalopathy 185
                      Infantile or Early Childhood Epileptic Encephalopathy 181
                        early infantile epileptic encephalopathy 178
                          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.