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

Grandparent Node:
EEG with focal epileptiform discharges (HP:0011185)

Parent Node:
EEG with focal spike waves (HP:0011197)

..Starting node
..EEG with centrotemporal focal spike waves (HP:0012557)

Term ID:

12557

Name:

EEG with centrotemporal focal spike waves

Synonym:

Definition:

EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.

Comments:

Reference:

HP:0012557

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with central focal spike waves (HP:0012009)

EEG with frontal focal spike waves (HP:0012010)

EEG with occipital focal spike waves (HP:0012011)

EEG with parietal focal spike waves (HP:0012012)

EEG with temporal focal spike waves (HP:0012013)

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