Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
EEG with generalized epileptiform discharges (HP:0011198)

Parent Node:
EEG with spike-wave complexes (HP:0010850)

..Starting node
..EEG with polyspike wave complexes (HP:0002392)

Term ID:

2392

Name:

EEG with polyspike wave complexes

Synonym:

EEG: spike and multispike waves, 3-4 hz

Definition:

The presence of complexes of repetitive spikes and waves in EEG.

Comments:

Reference:

HP:0002392

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with irregular generalized spike and wave complexes (HP:0001326)

EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)

EEG with spike-wave complexes (<2.5 Hz) (HP:0010847)

EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	127
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	146
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	65
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	44
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	6
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	51
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040281 - Very frequent	153
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	153
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	134
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	10
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent	302
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	133
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent	77
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	28
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	9
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	4
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare	2
HP:0002392	HP:0002392	EEG with polyspike wave complexes	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56

Genes (47) :ADGRG1 AGRN AKT3 AP2M1 APC2 CACNB4 CHAT CHD2 CILK1 CLCN2 COL13A1 CSTB EFHC1 GABRA1 GABRD GABRG2 JRK KCNC2 KCNQ3 MTOR MYO9A NEXMIF PGAP2 PGAP3 PI4KA PIGL PIGO PIGV PIGW PIGY PIK3CA PRICKLE1 PSAT1 SCARB2 SCN1A SETD1B SLC18A3 SLC25A1 SLC2A1 SLC5A7 SLC6A1 SNAP25 SRPX2 SYNGAP1 SYT2 VAMP1 YWHAG

Diseases (17) :ORPHA:98889 ORPHA:98914 ORPHA:99802 OMIM:618587 ORPHA:1942 OMIM:617169 OMIM:607682 ORPHA:307 OMIM:254800 ORPHA:308 ORPHA:1941 OMIM:607681 OMIM:619913 ORPHA:247262 ORPHA:284417 OMIM:619000 OMIM:617665

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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