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:
Interictal EEG abnormality (HP:0025373)

..Starting node
..Normal interictal EEG (HP:0002372)

Term ID:

2372

Name:

Normal interictal EEG

Synonym:

Definition:

Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.

Comments:

Reference:

HP:0002372

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent posterior alpha rhythm (HP:0031518)

Continuous spike and waves during slow sleep (HP:0031491)

Increased theta frequency activity in EEG (HP:0031535)

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:0002372	HP:0002372	Normal interictal EEG	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040281 - Very frequent	528
HP:0002372	HP:0002372	Normal interictal EEG	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040281 - Very frequent	302
HP:0002372	HP:0002372	Normal interictal EEG	0	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040281 - Very frequent
HP:0002372	HP:0002372	Normal interictal EEG	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040281 - Very frequent	94
HP:0002372	HP:0002372	Normal interictal EEG	0	PRRT2 CL E G H	112476	30500	OMIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	.	94
HP:0002372	HP:0002372	Normal interictal EEG	0	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040281 - Very frequent	94
HP:0002372	HP:0002372	Normal interictal EEG	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040281 - Very frequent	427
HP:0002372	HP:0002372	Normal interictal EEG	0	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3	.	427
HP:0002372	HP:0002372	Normal interictal EEG	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040281 - Very frequent	357
HP:0002372	HP:0002372	Normal interictal EEG	0	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040281 - Very frequent	357

Genes (6) :KCNQ2 KCNQ3 PDE2A PRRT2 SCN2A SCN8A

Diseases (4) :ORPHA:306 ORPHA:31709 OMIM:602066 OMIM:607745

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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