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:
Interictal epileptiform activity (HP:0011182)

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

..Starting node
..EEG with focal sharp slow waves (HP:0011195)

Term ID:

11195

Name:

EEG with focal sharp slow waves

Synonym:

Definition:

EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.

Comments:

Reference:

HP:0011195

Genes and Diseases:

Child Nodes:

........

EEG with occipital sharp slow waves (HP:0011287)

........

EEG with parietal sharp slow waves (HP:0011288)

........

EEG with temporal sharp slow waves (HP:0011289)

........

EEG with frontal sharp slow waves (HP:0011290)

........

EEG with central sharp slow waves (HP:0011291)

Sister Nodes:

EEG with focal sharp waves (HP:0011196)

EEG with focal spike waves (HP:0011197)

EEG with focal spikes (HP:0011193)

Focal EEG discharges with propagation to ipsilateral hemisphere (HP:0011187)

Focal EEG discharges with secondary generalization (HP:0011188)

Focal epileptiform discharges with limited propagation to contralateral hemisphere (HP:0011186)

Hemihypsarrhythmia (HP:0011215)

Multifocal epileptiform discharges (HP:0010841)

Polymorphic focal epileptiform discharges (HP:0011192)

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:0011195	HP:0011195	EEG with focal sharp slow waves	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	449
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	227
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	72
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	57
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	61
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040281 - Very frequent	1053
HP:0011195	HP:0011195	EEG with focal sharp slow waves	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0011195	HP:0011291	EEG with central sharp slow waves	1	CL E G H
HP:0011195	HP:0011288	EEG with parietal sharp slow waves	1	CL E G H
HP:0011195	HP:0011287	EEG with occipital sharp slow waves	1	CL E G H
HP:0011195	HP:0011289	EEG with temporal sharp slow waves	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011195	HP:0011290	EEG with frontal sharp slow waves	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19

Genes (13) :AKT3 CACNA1A CHD2 CUX2 DNM1 GABRB3 GNB1 HID1 MAPK10 MTOR PIK3CA SCN1A SPATA5

Diseases (5) :ORPHA:99802 ORPHA:2382 OMIM:616973 OMIM:619983 ORPHA:457351

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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