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 with generalized epileptiform discharges (HP:0011198)

Parent Node:
EEG with spike-wave complexes (HP:0010850)

..Starting node
..EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)

Term ID:

10848

Name:

EEG with spike-wave complexes (2.5-3.5 Hz)

Synonym:

Definition:

The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).

Comments:

Reference:

HP:0010848

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with irregular generalized spike and wave complexes (HP:0001326)

EEG with polyspike wave complexes (HP:0002392)

EEG with spike-wave complexes (<2.5 Hz) (HP:0010847)

EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)

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:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	75
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	134
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	57
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	139
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0010848	HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	255

Genes (8) :CACNA1H GABRA1 GABRB3 GABRG2 JRK KCNA2 SETD1B SLC2A1

Diseases (3) :ORPHA:64280 OMIM:616366 OMIM:619000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.