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:West syndrome
go back to main search page
Accession:DOID:0050562 term browser browse the term
Definition:An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)
Synonyms:exact_synonym: Cryptogenic Infantile Spasm;   Cryptogenic West Syndrome;   Hypsarrhythmia;   Infantile Spasm;   Infantile Spasms;   Jackknife Seizure;   Jackknife Seizures;   Lightning Attack;   Lightning Attacks;   Nodding Spasm;   Nodding Spasms;   Salaam Attacks;   Salaam Seizures;   Spasmus Nutans;   Symptomatic Infantile Spasm;   cryptogenic infantile spasms;   hypsarrhythmias;   symptomatic West syndrome;   symptomatic infantile spasms
 narrow_synonym: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT;   EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE;   Neonatal encephalopathy with seizures
 related_synonym: Infantile spasms syndrome
 primary_id: MESH:D013036
 alt_id: OMIA:001471
 xref: GARD:7887;   NCI:C84788;   ORDO:3451

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment ISO RGD PMID:24321005 RGD:9588540 NCBI chrNW_004624824:6,112,644...6,202,936
Ensembl chrNW_004624824:6,141,213...6,202,936 		JBrowse link
G Arx aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chrNW_004624897:1,279,138...1,303,210 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:16330482 PMID:16813600 PMID:18414213 PMID:18790821 PMID:19362436 More... NCBI chrNW_004624829:3,288,239...3,479,620
Ensembl chrNW_004624829:3,356,580...3,472,832 		JBrowse link
G Cfl1 cofilin 1 ISO protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chrNW_004624744:25,194,458...25,196,658
Ensembl chrNW_004624744:25,194,495...25,196,488 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 NCBI chrNW_004624760:6,605,902...6,646,575
Ensembl chrNW_004624760:6,604,787...6,646,622 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 PMID:28492532 NCBI chrNW_004624787:8,308,759...8,345,929
Ensembl chrNW_004624787:8,308,759...8,347,686 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chrNW_004624733:2,126,124...2,204,966
Ensembl chrNW_004624733:2,124,825...2,205,378 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:2753503 PMID:22275249 PMID:23692823 PMID:24318194 PMID:24759409 More... NCBI chrNW_004624741:29,089,894...29,143,681
Ensembl chrNW_004624741:29,091,119...29,143,589 		JBrowse link
G LOC101715424 tubulin alpha-1B chain-like ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:26130693 NCBI chrNW_004624816:3,001,252...3,006,166 JBrowse link
G Mast4 microtubule associated serine/threonine kinase family member 4 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar NCBI chrNW_004624815:2,539,867...3,139,943
Ensembl chrNW_004624815:2,539,785...3,139,696 		JBrowse link
G Mc2r melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chrNW_004624770:20,431,571...20,476,405 JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 NCBI chrNW_004624737:8,021,478...8,154,543
Ensembl chrNW_004624737:8,022,836...8,154,422 		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 chrNW_004624741:9,030,817...9,859,597
Ensembl chrNW_004624741:9,031,204...9,856,556 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 More... NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		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 More... NCBI chrNW_004624829:3,485,635...3,498,431
Ensembl chrNW_004624829:3,485,708...3,518,447 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome ClinVar PMID:14504318 PMID:15880351 PMID:18804930 PMID:18930999 PMID:19563458 More... NCBI chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: West syndrome ClinVar PMID:12374766 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 More... NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936 		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 chrNW_004624766:21,710,867...21,717,724
Ensembl chrNW_004624766:21,712,907...21,717,724 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome ClinVar PMID:18414213 PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 More... NCBI chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hypsarrhythmia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624832:4,902,335...4,937,806
Ensembl chrNW_004624832:4,902,659...4,936,926 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:32001716 NCBI chrNW_004624870:4,768,307...4,801,333
Ensembl chrNW_004624870:4,782,252...4,799,703 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chrNW_004624747:9,911,323...9,940,770
Ensembl chrNW_004624747:9,911,448...9,940,537 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: West syndrome		 ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624746:7,983,863...8,924,312
Ensembl chrNW_004624746:7,984,671...8,924,136 		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 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chrNW_004624845:2,972,308...3,055,596
Ensembl chrNW_004624845:3,046,063...3,050,560 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM
ClinVar		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chrNW_004624762:11,409,837...11,435,709
Ensembl chrNW_004624762:11,409,727...11,435,811 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chrNW_004624845:3,164,746...3,176,328
Ensembl chrNW_004624845:3,167,528...3,175,781 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 PMID:25741868 NCBI chrNW_004624783:15,226,927...15,285,931
Ensembl chrNW_004624783:15,226,852...15,285,931 		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 syndrome ClinVar PMID:28492532 NCBI chrNW_004624833:6,117,260...6,260,211
Ensembl chrNW_004624833:6,116,686...6,260,211 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chrNW_004624847:4,961,552...5,035,125
Ensembl chrNW_004624847:4,961,552...5,035,061 		JBrowse link
G Znhit3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar		 PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chrNW_004624871:3,573,030...3,585,012
Ensembl chrNW_004624871:3,576,939...3,585,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    syndrome 9749
      infancy electroclinical syndrome 117
        West syndrome 36
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          Norrie disease 4
          PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      nervous system disease 12265
        central nervous system disease 10988
          brain disease 10303
            epilepsy 2695
              electroclinical syndrome 1379
                infancy electroclinical syndrome 117
                  West syndrome 36
                    Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                    Norrie disease 4
                    PEHO syndrome 4
paths to the root