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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.

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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 CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:752T>A (p.M251K)(rat) 		CTD
RGD		 PMID:17196942 RGD:1598976 NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: CACNA1H-related disorder ClinVar PMID:9536098 PMID:17576681 PMID:17696120 PMID:21703448 PMID:25741868 More... NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr22:11,751,026...11,891,407
Ensembl chr22:11,749,727...11,890,924 		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 chr19:19,263,950...19,406,952
Ensembl chr19:19,267,426...19,406,883 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 5:21,975,706...22,081,428
Ensembl chr 5:21,976,428...22,081,547 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr23:64,020,770...64,038,419
Ensembl chr23:64,021,842...64,039,563 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs 		CTD
RGD		 PMID:16835263 PMID:18514161 RGD:1601269 NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr 9:44,653,044...44,690,142
Ensembl chr 9:44,653,289...44,688,954 		JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr 2:62,286,828...62,692,061 JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 4:44,029,173...44,443,669 JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr 9:84,081,713...84,191,112
Ensembl chr 9:84,083,396...84,190,876 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:136,896,858...136,916,951
Ensembl chr 8:136,911,217...136,912,923 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:133,872,599...133,964,259
Ensembl chr 8:133,869,524...133,964,415 		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 6:30,057,248...30,075,435
Ensembl chr 6:30,057,917...30,067,696 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		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 phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:56,230,006...56,416,398
Ensembl chr26:56,230,723...56,417,052 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:55,147,512...55,227,801
Ensembl chr26:55,147,511...55,227,297 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 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 chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:54,570,497...55,126,712 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 chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774 		JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr12:85,545,609...85,735,804
Ensembl chr12:85,545,608...85,732,780 		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 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 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 chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		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 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 chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		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 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 chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		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 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 chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    syndrome 10491
      electroclinical syndrome 1488
        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 15420
    disease of anatomical entity 15083
      nervous system disease 13233
        central nervous system disease 11828
          brain disease 11099
            epilepsy 2879
              electroclinical syndrome 1488
                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