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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:infancy electroclinical syndrome
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Accession:DOID:0050703 term browser browse the term
Definition:An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
benign familial infantile epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISS OMIM:601764 | OMIM:605751 | OMIM:607745 | OMIM:612627 MouseDO NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISS OMIM:601764 | OMIM:605751 | OMIM:607745 | OMIM:612627 MouseDO NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9579893, PMID:11179027, PMID:12953268, PMID:22101681, PMID:22120146, PMID:22131361, PMID:22209761, PMID:22243967, PMID:22399141, PMID:22623405, PMID:22744660, PMID:22782515, PMID:22832103, PMID:22845787, PMID:22870186, PMID:22875091, PMID:22877996, PMID:22985072, PMID:23077016, PMID:23077017, PMID:23077024, PMID:23077026, PMID:23126439, PMID:23180180, PMID:23182655, PMID:23299620, PMID:23343561, PMID:23532549, PMID:23535490, PMID:23768507, PMID:23771590, PMID:24074546, PMID:24370076, PMID:24609974, PMID:24661410, PMID:24755245, PMID:25457817, PMID:25502464, PMID:25522171, PMID:25595153, PMID:25667652, PMID:25741868, PMID:25915028, PMID:26384010, PMID:26446061, PMID:26467025, PMID:26544041, PMID:26561923, PMID:26598493, PMID:26598494, PMID:26621826, PMID:26717662, PMID:26876767, PMID:26993267, PMID:27123484, PMID:28074849, PMID:28492532, PMID:29334453, PMID:30311386 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 ISO ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 ClinVar PMID:23020937, PMID:23934111, PMID:25740509, PMID:25741868, PMID:26350515, PMID:28135719, PMID:28492532, PMID:28628100, PMID:29655203, PMID:30311386, PMID:30578330 NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 ClinVar
OMIM
PMID:18414213, PMID:25741868, PMID:26677014, PMID:27210545, PMID:28492532 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
OMIM
PMID:1868258, PMID:1893099, PMID:9126059, PMID:10486327, PMID:10521305, PMID:10742094, PMID:11118488, PMID:11254444, PMID:11254445, PMID:11359211, PMID:11567038, PMID:11940708, PMID:12083760, PMID:12086636, PMID:12566275, PMID:12610651, PMID:12754708, PMID:12821740, PMID:12919402, PMID:14504318, PMID:14672992, PMID:14702334, PMID:14738421, PMID:15263074, PMID:15277629, PMID:15508915, PMID:15508916, PMID:15880351, PMID:16430863, PMID:16458823, PMID:16505326, PMID:16541393, PMID:16713913, PMID:16713920, PMID:17000989, PMID:17054684, PMID:17054685, PMID:17166794, PMID:17347258, PMID:17561957, PMID:17903680, PMID:18021921, PMID:18031552, PMID:18056581, PMID:18076640, PMID:18413471, PMID:18414213, PMID:18554359, PMID:18680191, PMID:18804930, PMID:18930999, PMID:19200853, PMID:19236456, PMID:19359143, PMID:19400878, PMID:19522081, PMID:19563458, PMID:19585586, PMID:19589774, PMID:19673951, PMID:19782004, PMID:19809937, PMID:20100831, PMID:20110217, PMID:20301494, PMID:20431604, PMID:20452746, PMID:20491869, PMID:20522430, PMID:20550552, PMID:20562086, PMID:20729507, PMID:20831750, PMID:20879882, PMID:21248271, PMID:21269283, PMID:21371021, PMID:21396429, PMID:21425109, PMID:21463290, PMID:21555645, PMID:21703448, PMID:21713554, PMID:21719429, PMID:21753172, PMID:21864321, PMID:21868258, PMID:21906962, PMID:22050978, PMID:22071555, PMID:22140375, PMID:22147323, PMID:22150645, PMID:22151702, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22719002, PMID:22780858, PMID:22848613, PMID:23086956, PMID:23195492, PMID:23398611, PMID:23527921, PMID:23662938, PMID:23762420, PMID:23808377, PMID:23821540, PMID:23884151, PMID:23895530, PMID:23934111, PMID:24066114, PMID:24097157, PMID:24136861, PMID:24168886, PMID:24328833, PMID:24679980, PMID:24776920, PMID:24836964, PMID:25243660, PMID:25326635, PMID:25326637, PMID:25348405, PMID:25378155, PMID:25401298, PMID:25669891, PMID:25741868, PMID:25741869, PMID:25818041, PMID:25885068, PMID:26096185, PMID:26169758, PMID:26188943, PMID:26467025, PMID:26544041, PMID:26845707, PMID:26990884, PMID:26993267, PMID:27113213, PMID:27231140, PMID:27236449, PMID:27267376, PMID:27465585, PMID:27781031, PMID:27864847, PMID:28079314, PMID:28102150, PMID:28148630, PMID:28192756, PMID:28202706, PMID:28492532, PMID:28544625, PMID:28708303, PMID:29100083, PMID:29141279, PMID:29358611, PMID:29460957, PMID:29760947, PMID:29852413, PMID:30146492, PMID:30311386, PMID:30321769, PMID:30525188, PMID:30619928, PMID:30659983, PMID:31102827, PMID:31791873, PMID:32238909, PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661, PMID:23895530, PMID:25250524, PMID:25741868, PMID:26467025, PMID:28235406, PMID:28440294, PMID:28492532, PMID:29264398 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:28492532 NCBI chr 2:195,738,613...195,821,608
Ensembl chr 2:195,738,619...195,821,608
JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISS
ISO
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar Annotator: match by term: Norrie Disease
ClinVar Annotator: match by OMIM:310600
OMIM
ClinVar
PMID:1303264, PMID:1307245, PMID:7814011, PMID:8069314, PMID:8240113, PMID:8268931, PMID:8790105, PMID:8990009, PMID:9143918, PMID:9382152, PMID:10484772, PMID:15776010, PMID:17334993, PMID:22563645, PMID:30311386 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome ClinVar PMID:26917597 NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300, PMID:25253658, PMID:25265257, PMID:25741868, PMID:26125038, PMID:26486474, PMID:28492532, PMID:31805580 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar
PMID:25741868, PMID:28335020, PMID:31048081 NCBI chr10:72,227,710...72,235,932
Ensembl chr10:72,228,222...72,235,888
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049, PMID:27281533, PMID:28492532, PMID:30108545, PMID:31112829, PMID:31257402 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP RGD PMID:24321005 RGD:9588540 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Arx aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:10338090, PMID:12124992, PMID:15365998, PMID:16479318, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: West syndrome
ClinVar Annotator: match by term: Infantile spasms
ClinVar PMID:16813600, PMID:18414213, PMID:18790821, PMID:21775177, PMID:22867051, PMID:25741868, PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Salaam seizures
CTD
ClinVar
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:16919904, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Mc2r melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:25262651, PMID:28492532 NCBI chr 1:260,527,344...260,679,132
Ensembl chr 1:260,527,781...260,638,915
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751, PMID:1327015, PMID:1656808, PMID:1965992, PMID:2551692, PMID:2554740, PMID:2853496, PMID:2983143, PMID:6107850, PMID:6143199, PMID:6254450, PMID:6259007, PMID:8381257, PMID:8928979, PMID:8980841, PMID:10908253, PMID:11341487, PMID:17287597, PMID:19039989, PMID:20078871 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chr 6:76,386,971...76,661,530
Ensembl chr 6:76,396,784...76,608,864
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:16813600, PMID:18414213, PMID:21775177, PMID:22867051, PMID:25741868, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:14504318, PMID:18804930, PMID:25348405, PMID:25741868, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar Annotator: match by term: Infantile spasms
ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar PMID:23409955 RGD:12903963 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile spasms
CTD
ClinVar
PMID:17304050, PMID:18345974, PMID:25741868, PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Salaam seizures ClinVar PMID:10852545, PMID:12529715, PMID:24033266, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      infancy electroclinical syndrome 38
        Dravet syndrome 4
        Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
        West syndrome + 34
        benign familial infantile epilepsy 2
Path 2
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
              electroclinical syndrome 396
                infancy electroclinical syndrome 38
                  Dravet syndrome 4
                  Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 1
                  West syndrome + 34
                  benign familial infantile epilepsy 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.