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:
Abnormality of central nervous system electrophysiology (HP:0030178)

Parent Node:
EEG abnormality (HP:0002353)

..Starting node
..EEG with abnormally slow frequencies (HP:0011203)

Term ID:

11203

Name:

EEG with abnormally slow frequencies

Synonym:

Definition:

EEG with abnormally slow frequencies.

Comments:

Reference:

HP:0011203

Genes and Diseases:

Child Nodes:

........

EEG with focal slow activity (HP:0010843)

................... HP:0011210 EEG with occipital slowing

........

EEG with multifocal slow activity (HP:0010844)

........

EEG with generalized slow activity (HP:0010845)

................... HP:0011204 EEG with continuous slow activity
................... HP:0011205 EEG with intermittent slow activity
................... HP:0011206 EEG with generalized slow activity grade 1
................... HP:0011207 EEG with generalized slow activity grade 2
................... HP:0011208 EEG with generalized slow activity grade 3
................... HP:0011209 EEG with generalized slow activity grade 4

Sister Nodes:

EEG with changes in voltage (HP:0011201)

EEG with constitutional variants (HP:0011176)

EEG with diffuse acceleration (HP:0011202)

EEG with photoparoxysmal response (HP:0010852)

Interictal EEG abnormality (HP:0025373)

Interictal epileptiform activity (HP:0011182)

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:0011203	HP:0011203	EEG with abnormally slow frequencies	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		7
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		239
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		150
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		449
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		5
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		59
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease		141
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent	111
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		18
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		47
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		72
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		60
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		5
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		4
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		44
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		139
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation		434
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		54
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		13
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		65
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		8
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		1
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	121
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		14
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		2
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		70
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		357
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		73
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		3
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		108
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		9
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		123
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		13
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	278
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy		149
HP:0011203	HP:0011203	EEG with abnormally slow frequencies	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0011203	HP:0010845	EEG with generalized slow activity	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0011203	HP:0010845	EEG with generalized slow activity	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	7
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	239
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	150
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0011203	HP:0010845	EEG with generalized slow activity	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0011203	HP:0010845	EEG with generalized slow activity	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	449
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	59
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	18
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0011203	HP:0010845	EEG with generalized slow activity	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	47
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	72
HP:0011203	HP:0010845	EEG with generalized slow activity	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0011203	HP:0010845	EEG with generalized slow activity	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	60
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	4
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	44
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	139
HP:0011203	HP:0010843	EEG with focal slow activity	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent	434
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0011203	HP:0010845	EEG with generalized slow activity	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0011203	HP:0010845	EEG with generalized slow activity	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	54
HP:0011203	HP:0010845	EEG with generalized slow activity	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	13
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	65
HP:0011203	HP:0010845	EEG with generalized slow activity	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0011203	HP:0010845	EEG with generalized slow activity	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0011203	HP:0010845	EEG with generalized slow activity	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0011203	HP:0010845	EEG with generalized slow activity	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0011203	HP:0010845	EEG with generalized slow activity	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0011203	HP:0010845	EEG with generalized slow activity	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	8
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	14
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0011203	HP:0010845	EEG with generalized slow activity	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0011203	HP:0010845	EEG with generalized slow activity	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0011203	HP:0010845	EEG with generalized slow activity	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0011203	HP:0010845	EEG with generalized slow activity	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010845	EEG with generalized slow activity	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	70
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	357
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	73
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0011203	HP:0010845	EEG with generalized slow activity	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010845	EEG with generalized slow activity	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0011203	HP:0010845	EEG with generalized slow activity	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0011203	HP:0010845	EEG with generalized slow activity	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	108
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	9
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	123
HP:0011203	HP:0010845	EEG with generalized slow activity	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0011203	HP:0010845	EEG with generalized slow activity	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0010845	EEG with generalized slow activity	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0011203	HP:0010845	EEG with generalized slow activity	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	13
HP:0011203	HP:0010845	EEG with generalized slow activity	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0011203	HP:0010845	EEG with generalized slow activity	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	149
HP:0011203	HP:0010844	EEG with multifocal slow activity	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011203	HP:0011206	EEG with generalized slow activity grade 1	2	CL E G H
HP:0011203	HP:0011205	EEG with intermittent slow activity	2	CL E G H
HP:0011203	HP:0011209	EEG with generalized slow activity grade 4	2	CL E G H
HP:0011203	HP:0011208	EEG with generalized slow activity grade 3	2	CL E G H
HP:0011203	HP:0011207	EEG with generalized slow activity grade 2	2	CL E G H
HP:0011203	HP:0011204	EEG with continuous slow activity	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	56
HP:0011203	HP:0011204	EEG with continuous slow activity	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	56
HP:0011203	HP:0011204	EEG with continuous slow activity	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	42
HP:0011203	HP:0011204	EEG with continuous slow activity	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	42
HP:0011203	HP:0011210	EEG with occipital slowing	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011203	HP:0011204	EEG with continuous slow activity	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	126
HP:0011203	HP:0011204	EEG with continuous slow activity	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	126
HP:0011203	HP:0011204	EEG with continuous slow activity	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	140
HP:0011203	HP:0011204	EEG with continuous slow activity	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	140
HP:0011203	HP:0011204	EEG with continuous slow activity	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	241
HP:0011203	HP:0011204	EEG with continuous slow activity	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	241
HP:0011203	HP:0011204	EEG with continuous slow activity	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	62
HP:0011203	HP:0011204	EEG with continuous slow activity	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent
HP:0011203	HP:0011204	EEG with continuous slow activity	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0011203	HP:0011204	EEG with continuous slow activity	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	31
HP:0011203	HP:0011204	EEG with continuous slow activity	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	31
HP:0011203	HP:0011204	EEG with continuous slow activity	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	63
HP:0011203	HP:0011204	EEG with continuous slow activity	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	63

Genes (85) :AARS1 ACTL6B ALDH7A1 AP2M1 AP3B2 ARV1 ATP1A2 ATP1A3 ATP6V1A C9ORF72 CACNA1A CACNA1B CACNA2D1 CDK19 CDKL5 CELF2 CHD2 CHMP2B CLN5 CLN8 CLTC CNKSR2 CNTNAP2 CYFIP2 CYP27A1 DALRD3 DHDDS DNM1 DOLK DPAGT1 EEF1A2 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GNB1 GRIN2A GRIN2D GRN HCN1 HID1 KCNA2 KCNB1 KPTN LMNB1 LRPPRC MAPT MECP2 NECAP1 NEXMIF NTRK2 NUS1 OCA2 P4HTM PARS2 PIGY PLP1 PLPBP PPP3CA PSEN1 RNF13 SCN1A SCN3A SCN8A SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SQSTM1 SYNGAP1 SYNJ1 SZT2 TMEM106B TRAK1 TREM2 UBA5 UBE3A VCP WWOX YWHAG

Diseases (24) :ORPHA:442835 ORPHA:3006 ORPHA:1942 ORPHA:275864 ORPHA:100070 OMIM:300672 ORPHA:228360 ORPHA:1947 ORPHA:163681 OMIM:213700 ORPHA:91131 ORPHA:86309 OMIM:616973 ORPHA:289266 OMIM:619983 ORPHA:397612 ORPHA:99027 ORPHA:70472 OMIM:300055 ORPHA:98794 OMIM:618493 OMIM:616809 ORPHA:280219 ORPHA:544503

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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