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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:Drug Resistant Epilepsy
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Accession:DOID:9004798 term browser browse the term
Definition:Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed.
Synonyms:exact_synonym: Drug Refractory Epilepsies;   Drug Refractory Epilepsy;   Drug Resistant Epilepsies;   Intractable Epilepsies;   Intractable Epilepsy;   Medication Resistant Epilepsies;   Medication Resistant Epilepsy
 primary_id: MESH:D000069279;   RDO:0016011
For additional species annotation, visit the Alliance of Genome Resources.


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Drug Resistant Epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: intractable epilepsy ClinVar PMID:25741868 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
familial temporal lobe epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO mRNA, protein:increased expression:hippocampus, temporal lobe (human)
ClinVar Annotator: match by term: MDR1 POLYMORPHISM
ClinVar PMID:10716719, PMID:11502320, PMID:12189368, PMID:12686700, PMID:15452305, PMID:15452306, PMID:15805193, PMID:16580900, PMID:16912956, PMID:16912957, PMID:17178268, PMID:17898703, PMID:18334914, PMID:19514130, PMID:20017669, PMID:20707787, PMID:21209234, PMID:21383334, PMID:21902500, PMID:22296372, PMID:22992668, PMID:23632726, PMID:24034787, PMID:24624916, PMID:24703092, PMID:25007187, PMID:25012726, PMID:25303299, PMID:25556837, PMID:25582575, PMID:27399166, PMID:27883323, PMID:28346387, PMID:28379874, PMID:28525903, PMID:29474345, PMID:24590840 RGD:11041150 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              Drug Resistant Epilepsy 2
                familial temporal lobe epilepsy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.