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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 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
 alt_id: RDO:0016135
 xref: NCI:C168598
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation
ClinVar Annotator: match by term: Focal epilepsy with speech disorder with or without mental retardation
OMIM
ClinVar
PMID:7574460 PMID:9526012 PMID:10996561 PMID:16537520 PMID:18414213 PMID:18718967 PMID:19286491 PMID:19292755 PMID:20384727 PMID:20890276 PMID:21376300 PMID:21499247 PMID:21507155 PMID:21681106 PMID:22833210 PMID:23033978 PMID:23294109 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:23940648 PMID:24455489 PMID:24463507 PMID:24504326 PMID:24828792 PMID:24848745 PMID:24903190 PMID:25164438 PMID:25326635 PMID:25596506 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26350204 PMID:26467025 PMID:26601054 PMID:26648591 PMID:26781712 PMID:26806548 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28102150 PMID:28109652 PMID:28492532 PMID:28936771 PMID:29056244 PMID:29124671 PMID:29317596 PMID:29358611 PMID:29778030 PMID:30544257 PMID:32238909 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar PMID:25741868 NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Epilepsy, focal, with speech disorder and with or without mental retardation ClinVar NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4520
        intellectual disability 2163
          Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  communication disorder 211
                    language disorder 129
                      speech disorder 53
                        Focal Epilepsy with Speech Disorder and with or without Mental Retardation 4
paths to the root