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ONTOLOGY REPORT - ANNOTATIONS


Term:Focal Epilepsy with Speech Disorder and with or without Mental Retardation
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Accession:DOID:9002510 term browser browse the term
Synonyms:exact_synonym: FESD
 narrow_synonym: ADRESD;   APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME;   BECTS;   BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES;   CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME;   CSWS;   CSWSS;   LKS;   RESDAD;   Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
 primary_id: OMIM:245570
 alt_id: RDO:0016135
For additional species annotation, visit the Alliance of Genome Resources.


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Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:7240710
RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Itsn2 intersectin 2 JBrowse link 6 30,098,378 30,208,694 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  communication disorder 212
                    language disorder 136
                      speech disorder 46
                        Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.