Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

..Starting node
..EEG with centrotemporal epileptiform discharges (HP:0033721)

Term ID:

33721

Name:

EEG with centrotemporal epileptiform discharges

Synonym:

Definition:

Focal epileptiform EEG discharges recorded in the centrotemporal region.

Comments:

Reference:

HP:0033721

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep		4
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep		434
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome		119
HP:0033721	HP:0033721	EEG with centrotemporal epileptiform discharges	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	4
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	139
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	434
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	434
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent	119
HP:0033721	HP:0012557	EEG with centrotemporal focal spike waves	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040281 - Very frequent	50

Genes (5) :FRRS1L GABRG2 GRIN2A IQSEC2 SRPX2

Diseases (4) :ORPHA:725 ORPHA:1945 OMIM:245570 ORPHA:217377

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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