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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:childhood absence epilepsy
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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 voltage-gated channel subunit alpha1 A ISO
EXP 		DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP
EXP 		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 chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244 		JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,560,857...36,703,752 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 IAGP RGD PMID:11904235 RGD:728397 NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,256,335...24,362,412 		JBrowse link
G EFHC1 EF-hand domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593 		JBrowse link
G GABRA6-AS1 GABRA6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr 5:161,687,342...161,689,410
Ensembl chr 5:161,687,347...161,689,408 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP
EXP 		DNA:SNPs
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18514161 PMID:16835263 RGD:1601269 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 IAGP RGD PMID:9259378 RGD:1358334 NCBI chr21:29,536,933...29,939,996
Ensembl chr21:29,536,933...29,940,033 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr10:90,740,823...90,858,039
Ensembl chr10:90,740,823...90,858,039 		JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,643,682...142,669,967
Ensembl chr 8:142,657,460...142,681,968 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset IAGP DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL355674.1 novel transcript IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr 9:74,371,531...74,383,530
Ensembl chr 9:74,371,335...74,384,578 		JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr15:26,971,181...27,541,984
Ensembl chr15:26,971,181...27,541,984 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:26068938 PMID:28492532 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G LOC126862077 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:26791415-26792614 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr15:26,546,268...26,547,467 JBrowse link
G LOC126862078 BRD4-independent group 4 enhancer GRCh37_chr15:26860170-26861369 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:11198279 PMID:23495136 PMID:26068938 PMID:26950270 More... NCBI chr15:26,615,023...26,616,222 JBrowse link
G MIR6130 microRNA 6130 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr21:23,079,284...23,079,392
Ensembl chr21:23,079,284...23,079,392 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G RORB RAR related orphan receptor B IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177 		JBrowse link
G RORB-AS1 RORB antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr 9:74,473,435...74,498,553
Ensembl chr 9:74,123,425...74,499,127 		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 alpha1 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 2
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 chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
Childhood Absence Epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP 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 Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5
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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		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 voltage-gated channel subunit alpha1 H susceptibility IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6
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 chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169 		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 alpha1 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13
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 chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    syndrome 39471
      electroclinical syndrome 1966
        absence epilepsy 274
          childhood electroclinical syndrome 124
            childhood absence epilepsy 36
              Childhood Absence Epilepsy 1 12
              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 151455
    disease of anatomical entity 138485
      nervous system disease 75363
        central nervous system disease 53936
          brain disease 51245
            epilepsy 4028
              electroclinical syndrome 1966
                absence epilepsy 274
                  childhood electroclinical syndrome 124
                    childhood absence epilepsy 36
                      Childhood Absence Epilepsy 1 12
                      Childhood Absence Epilepsy 2 2
                      Childhood Absence Epilepsy 5 1
                      Childhood Absence Epilepsy 6 1
                      Idiopathic Generalized Epilepsy 13 1
paths to the root