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 abnormality (HP:0002353)

Parent Node:
EEG with abnormally slow frequencies (HP:0011203)

..Starting node
..EEG with multifocal slow activity (HP:0010844)

Term ID:

10844

Name:

EEG with multifocal slow activity

Synonym:

Definition:

Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).

Comments:

Reference:

HP:0010844

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with focal slow activity (HP:0010843)

EEG with generalized slow activity (HP:0010845)

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:0010844	HP:0010844	EEG with multifocal slow activity	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	7
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	239
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	150
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	449
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	59
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	18
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	47
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	72
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	60
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	4
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	44
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	139
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	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:0010844	HP:0010844	EEG with multifocal slow activity	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	54
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	13
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	65
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	8
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	14
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	70
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	357
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	73
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	108
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	9
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	123
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	13
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent	149
HP:0010844	HP:0010844	EEG with multifocal slow activity	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent

Genes (50) :AARS1 ACTL6B AP3B2 ARV1 ATP1A2 ATP1A3 ATP6V1A CACNA1A CACNA1B CACNA2D1 CDK19 CELF2 CLTC CNKSR2 CYFIP2 DALRD3 DHDDS DNM1 EEF1A2 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GRIN2A GRIN2D HCN1 KCNA2 KCNB1 NECAP1 NTRK2 NUS1 PARS2 PIGY PPP3CA SCN3A SCN8A SLC13A5 SLC1A2 SLC38A3 SYNGAP1 SYNJ1 SZT2 TRAK1 UBA5 WWOX YWHAG

Diseases (3) :ORPHA:442835 ORPHA:289266 OMIM:616809

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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