Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:childhood absence epilepsy
go back to main search page
Accession:DOID:1825 term browser browse the term
Definition:A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (DO)
Synonyms:exact_synonym: Minor Epilepsy;   akinetic petit mal;   atonic absence seizure;   atypical absence epilepsy;   childhood absence epilepsies;   minor epilepsies;   petit mal convulsion;   petit mal epilepsies;   petit mal epilepsy;   petit mal seizure;   pykno epilepsy;   pykno-epilepsies;   pyknolepsies;   pyknolepsy
 broad_synonym: CACNA1H-RELATED DISORDER
 related_synonym: Epilepsy, Childhood Absence, Susceptibility To, 4
 primary_id: MESH:D004832
 alt_id: MESH:C567002
 xref: MIM:PS600131;   MONDO:0010826;   NCI:C128189;   NCI:C3023
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: CACNA1H-related disorder
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:17696120 PMID:21703448 PMID:25741868 More... RGD:1358447 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542 		JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr15:77,876,119...78,004,420
Ensembl chr15:77,875,948...78,004,228 		JBrowse link
G Cacng3 calcium channel, voltage-dependent, gamma subunit 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 7:122,270,967...122,368,616
Ensembl chr 7:122,269,715...122,368,616 		JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha 6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:42,197,264...42,211,977
Ensembl chr11:42,197,264...42,211,899 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:SNPs
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18514161 PMID:16835263 RGD:1601269 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222 		JBrowse link
G Grik1 glutamate receptor, ionotropic, kainate 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr16:87,692,789...88,087,751
Ensembl chr16:87,692,788...88,087,153 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954 		JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr19:35,935,815...36,035,533
Ensembl chr19:35,936,134...36,034,907 		JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,574,261...74,581,171
Ensembl chr15:74,574,150...74,581,384 		JBrowse link
G Kcnk9 potassium channel, subfamily K, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr15:72,373,722...72,422,415
Ensembl chr15:72,372,938...72,418,189 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 7:30,758,360...30,770,347
Ensembl chr 7:30,758,767...30,770,360 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase, class V, type 10A ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168 		JBrowse link
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:8382702 PMID:9536098 PMID:11198279 PMID:11742254 More... NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor, subunit gamma 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 7:56,366,211...57,037,173
Ensembl chr 7:56,366,213...57,036,936 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:26068938 PMID:28492532 NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		JBrowse link
G Oca2 oculocutaneous albinism II ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Rorb RAR-related orphan receptor beta ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr19:18,907,966...19,088,560
Ensembl chr19:18,907,969...19,088,560 		JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 More... NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684 		JBrowse link
Childhood Absence Epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 ClinVar
OMIM		 PMID:18514161 PMID:19935738 PMID:20550555 PMID:22303015 PMID:23934111 More... NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
Idiopathic Generalized Epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    syndrome 10909
      electroclinical syndrome 1527
        absence epilepsy 239
          childhood electroclinical syndrome 103
            childhood absence epilepsy 26
              Childhood Absence Epilepsy 1 7
              Childhood Absence Epilepsy 2 2
              Childhood Absence Epilepsy 5 1
              Childhood Absence Epilepsy 6 1
              Idiopathic Generalized Epilepsy 13 1
Path 2
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      nervous system disease 13800
        central nervous system disease 12326
          brain disease 11569
            epilepsy 2945
              electroclinical syndrome 1527
                absence epilepsy 239
                  childhood electroclinical syndrome 103
                    childhood absence epilepsy 26
                      Childhood Absence Epilepsy 1 7
                      Childhood Absence Epilepsy 2 2
                      Childhood Absence Epilepsy 5 1
                      Childhood Absence Epilepsy 6 1
                      Idiopathic Generalized Epilepsy 13 1
paths to the root