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 (>3.5 Hz) (HP:0010849)

Term ID:

10849

Name:

EEG with spike-wave complexes (>3.5 Hz)

Synonym:

EEG with 3-4-Hz spike waves

Definition:

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

Comments:

Reference:

HP:0010849

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 (2.5-3.5 Hz) (HP:0010848)

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

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:0010849	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.	153
HP:0010849	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0010849	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040282 - Frequent	114
HP:0010849	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0010849	HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053

Genes (4) :EFHC1 GABRG2 KCNMA1 SCN1A

Diseases (5) :OMIM:607631 OMIM:607681 ORPHA:79137 OMIM:609446 OMIM:619317

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