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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Bilateral tonic-clonic seizure with focal onset
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Accession:HP:0007334 term browser browse the term
Definition:A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
Comment:The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset.
Synonyms:exact_synonym: Focal seizure with secondary generalisation;   Focal seizure with secondary generalization;   Focal to bilateral tonic-clonic seizure;   Generalised tonic-clonic seizure with focal onset;   Generalised tonic-clonic seizure with partial onset;   Generalised tonic-clonic seizures with focal onset;   Generalized tonic-clonic seizure with focal onset;   Generalized tonic-clonic seizure with partial onset;   Generalized tonic-clonic seizures with focal onset;   Partial seizure with secondary generalisation;   Partial seizure with secondary generalization;   Partial seizures with secondary generalisation;   Partial seizures with secondary generalization;   Secondarily generalised tonic-clonic seizure;   Secondarily generalised tonic-clonic seizures;   Secondarily generalized tonic-clonic seizure;   Secondarily generalized tonic-clonic seizures;   Secondary generalised tonic clonic seizures;   Secondary generalized tonic clonic seizures
 alt_id: HP:0002602
 xref: UMLS:C0877017

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Bilateral tonic-clonic seizure with focal onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ADAM22 ADAM metallopeptidase domain 22 IAGP HPO OMIM:617933 NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889 		JBrowse link
G H ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO OMIM:619605 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G H CEP85L centrosomal protein 85 like IAGP HPO OMIM:618873 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G H CNTNAP2 contactin associated protein 2 IAGP HPO OMIM:610042 ORPHA:163681 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998 		JBrowse link
G H DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO ORPHA:101046 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G H EPM2A EPM2A glucan phosphatase, laforin IAGP HPO OMIM:254780 ORPHA:501 NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023 		JBrowse link
G H FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:612691 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G H GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:1945 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G H GAL galanin and GMAP prepropeptide IAGP HPO OMIM:616461 NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175 		JBrowse link
G H GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP HPO OMIM:245570 ORPHA:163721 ORPHA:1945 NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928 		JBrowse link
G H IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G H KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO OMIM:616056 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G H KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO OMIM:618856 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G H KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO OMIM:617643 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G H KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:293181 ORPHA:306 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G H KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP HPO ORPHA:306 NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,861...132,481,095 		JBrowse link
G H KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP HPO ORPHA:293181 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G H KCTD7 potassium channel tetramerization domain containing 7 IAGP HPO OMIM:611726 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G H KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H LGI1 leucine rich glioma inactivated 1 IAGP HPO OMIM:600512 ORPHA:101046 NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272 		JBrowse link
G H MAST3 microtubule associated serine/threonine kinase 3 IAGP HPO OMIM:620115 NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692 		JBrowse link
G H MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 IAGP HPO OMIM:600512 NCBI chr 6:109,444,062...109,465,968
Ensembl chr 6:109,444,062...109,465,968 		JBrowse link
G H MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP HPO OMIM:614947 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639 		JBrowse link
G H NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:501 NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677 		JBrowse link
G H PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO OMIM:618067 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G H PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP HPO OMIM:614652 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		JBrowse link
G H PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:293181 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G H PLCB1 phospholipase C beta 1 IAGP HPO ORPHA:293181 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G H POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254881 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G H PPFIBP1 PPFIA binding protein 1 IAGP HPO OMIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G H PPP2CA protein phosphatase 2 catalytic subunit alpha IAGP HPO OMIM:618354 NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073 		JBrowse link
G H PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:306 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G H PSAP prosaposin IAGP HPO OMIM:610539 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G H PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G H RELN reelin IAGP HPO OMIM:600512 ORPHA:101046 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G H SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:293181 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G H SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO OMIM:607745 OMIM:613721 ORPHA:293181 ORPHA:306 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G H SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO OMIM:614558 ORPHA:306 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G H SLC12A5 solute carrier family 12 member 5 IAGP HPO OMIM:616645 ORPHA:293181 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G H SLC22A5 solute carrier family 22 member 5 IAGP HPO ORPHA:158 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G H SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:293181 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G H SLC38A3 solute carrier family 38 member 3 IAGP HPO OMIM:619881 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G H SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:163721 ORPHA:1945 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G H STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:599373 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G H SZT2 SZT2 subunit of KICSTOR complex IAGP HPO OMIM:615476 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G H TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:293181 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G H TRIM8 tripartite motif containing 8 IAGP HPO OMIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system physiology 14480
          Seizure 2859
            Focal-onset seizure 478
              Bilateral tonic-clonic seizure with focal onset 48
                Focal-onset seizure evolving into bilateral convulsive status epilepticus 0
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