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:
Focal motor seizure (HP:0011153)

Parent Node:
Focal clonic seizure (HP:0002266)

..Starting node
..Focal hemiclonic seizure (HP:0006813)

Term ID:

6813

Name:

Focal hemiclonic seizure

Synonym:

Hemiclonic seizure; Hemiclonic seizures; Unilateral clonic seizure; Unilateral clonic seizures

Definition:

A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.

Comments:

Reference:

HP:0006813

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal hemifacial clonic seizure (HP:0007332)

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:0006813	HP:0006813	Focal hemiclonic seizure	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	4
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.	134
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	434
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.	1053
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.	126
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0006813	HP:0006813	Focal hemiclonic seizure	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0006813	HP:0032799	Focal impaired awareness hemiclonic seizure	1	CL E G H
HP:0006813	HP:0032757	Focal aware hemiclonic seizure	1	CL E G H

Genes (15) :ATP1A3 FRRS1L GABRA1 GABRG2 GNB1 GRIN2A KANSL1 PCDH19 SCN1A SCN1B SCN2A SCN8A SCN9A SLC12A5 SMARCAL1

Diseases (15) :OMIM:619606 ORPHA:725 OMIM:616981 ORPHA:33069 OMIM:615744 OMIM:616973 ORPHA:363958 ORPHA:363965 OMIM:619317 OMIM:607208 OMIM:604403 OMIM:617350 OMIM:614558 OMIM:616645 ORPHA:1830

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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