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 generalized slow activity (HP:0010845)

Term ID:

10845

Name:

EEG with generalized slow activity

Synonym:

EEG with generalised slow activity; EEG: generalised slow activity; EEG: generalized slow activity

Definition:

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

Comments:

Reference:

HP:0010845

Genes and Diseases:

Child Nodes:

........

EEG with continuous slow activity (HP:0011204)

........

EEG with intermittent slow activity (HP:0011205)

........

EEG with generalized slow activity grade 1 (HP:0011206)

........

EEG with generalized slow activity grade 2 (HP:0011207)

........

EEG with generalized slow activity grade 3 (HP:0011208)

........

EEG with generalized slow activity grade 4 (HP:0011209)

Sister Nodes:

EEG with focal slow activity (HP:0010843)

EEG with multifocal slow activity (HP:0010844)

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:0010845	HP:0010845	EEG with generalized slow activity	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0010845	HP:0010845	EEG with generalized slow activity	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0010845	HP:0010845	EEG with generalized slow activity	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0010845	HP:0010845	EEG with generalized slow activity	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0010845	HP:0010845	EEG with generalized slow activity	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0010845	HP:0010845	EEG with generalized slow activity	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0010845	HP:0010845	EEG with generalized slow activity	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0010845	HP:0010845	EEG with generalized slow activity	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0010845	HP:0010845	EEG with generalized slow activity	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0010845	HP:0010845	EEG with generalized slow activity	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0010845	HP:0010845	EEG with generalized slow activity	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0010845	HP:0010845	EEG with generalized slow activity	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0010845	HP:0010845	EEG with generalized slow activity	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0010845	HP:0010845	EEG with generalized slow activity	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0010845	HP:0010845	EEG with generalized slow activity	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0010845	HP:0010845	EEG with generalized slow activity	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0010845	HP:0010845	EEG with generalized slow activity	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0010845	HP:0010845	EEG with generalized slow activity	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0010845	HP:0010845	EEG with generalized slow activity	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0010845	HP:0010845	EEG with generalized slow activity	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0010845	HP:0010845	EEG with generalized slow activity	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0010845	HP:0010845	EEG with generalized slow activity	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0010845	HP:0010845	EEG with generalized slow activity	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0010845	HP:0010845	EEG with generalized slow activity	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0010845	HP:0010845	EEG with generalized slow activity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0010845	HP:0010845	EEG with generalized slow activity	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0010845	HP:0010845	EEG with generalized slow activity	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0010845	HP:0010845	EEG with generalized slow activity	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0010845	HP:0010845	EEG with generalized slow activity	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0010845	HP:0010845	EEG with generalized slow activity	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0010845	HP:0010845	EEG with generalized slow activity	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0010845	HP:0011205	EEG with intermittent slow activity	1	CL E G H
HP:0010845	HP:0011209	EEG with generalized slow activity grade 4	1	CL E G H
HP:0010845	HP:0011208	EEG with generalized slow activity grade 3	1	CL E G H
HP:0010845	HP:0011207	EEG with generalized slow activity grade 2	1	CL E G H
HP:0010845	HP:0011206	EEG with generalized slow activity grade 1	1	CL E G H
HP:0010845	HP:0011204	EEG with continuous slow activity	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	56
HP:0010845	HP:0011204	EEG with continuous slow activity	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	56
HP:0010845	HP:0011204	EEG with continuous slow activity	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	42
HP:0010845	HP:0011204	EEG with continuous slow activity	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	42
HP:0010845	HP:0011204	EEG with continuous slow activity	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	126
HP:0010845	HP:0011204	EEG with continuous slow activity	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	126
HP:0010845	HP:0011204	EEG with continuous slow activity	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	140
HP:0010845	HP:0011204	EEG with continuous slow activity	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	140
HP:0010845	HP:0011204	EEG with continuous slow activity	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	241
HP:0010845	HP:0011204	EEG with continuous slow activity	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	241
HP:0010845	HP:0011204	EEG with continuous slow activity	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	62
HP:0010845	HP:0011204	EEG with continuous slow activity	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent
HP:0010845	HP:0011204	EEG with continuous slow activity	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0010845	HP:0011204	EEG with continuous slow activity	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	31
HP:0010845	HP:0011204	EEG with continuous slow activity	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	31
HP:0010845	HP:0011204	EEG with continuous slow activity	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	63
HP:0010845	HP:0011204	EEG with continuous slow activity	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	63

Genes (29) :ALDH7A1 AP2M1 C9ORF72 CDKL5 CHD2 CHMP2B CLN5 CNTNAP2 CYP27A1 DOLK DPAGT1 GRN HID1 KPTN LMNB1 MAPT MECP2 NEXMIF PLPBP PSEN1 RNF13 SCN1A SLC2A1 SLC6A1 SQSTM1 SYNGAP1 TMEM106B TREM2 VCP

Diseases (15) :ORPHA:3006 ORPHA:1942 ORPHA:275864 ORPHA:100070 OMIM:300672 ORPHA:228360 ORPHA:163681 OMIM:213700 ORPHA:91131 ORPHA:86309 OMIM:619983 ORPHA:397612 ORPHA:99027 OMIM:300055 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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