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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   focal epilepsy with speech disorder and with or without impaired intellectual development;   focal epilepsy with speech disorder with or without mental retardation
 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;   DYSTONIA, INTELLECTUAL DISABILITY AND LANGUAGE IMPAIRMENT;   LKS;   RESDAD;   Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
 primary_id: OMIM:245570
 xref: NCI:C168598


show annotations for term's descendants           Sort by:
Focal Epilepsy with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT		 OMIM
CTD
ClinVar		 PMID:7574460 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  communication disorder 402
                    language disorder 156
                      speech disorder 80
                        Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
paths to the root