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:
Interictal epileptiform activity (HP:0011182)

Parent Node:
EEG with generalized epileptiform discharges (HP:0011198)

..Starting node
..EEG with generalized polyspikes (HP:0012001)

Term ID:

12001

Name:

EEG with generalized polyspikes

Synonym:

EEG with generalised polyspikes

Definition:

EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.

Comments:

Reference:

HP:0012001

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with burst suppression (HP:0010851)

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

EEG with generalized sharp slow waves (HP:0011199)

EEG with generalized spikes (HP:0012000)

EEG with spike-wave complexes (HP:0010850)

Hypsarrhythmia (HP:0002521)

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:0012001	HP:0012001	EEG with generalized polyspikes	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0012001	HP:0012001	EEG with generalized polyspikes	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0012001	HP:0012001	EEG with generalized polyspikes	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.	153
HP:0012001	HP:0012001	EEG with generalized polyspikes	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0012001	HP:0012001	EEG with generalized polyspikes	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0012001	HP:0012001	EEG with generalized polyspikes	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126

Genes (6) :CHD2 CNTNAP2 EFHC1 FRRS1L GRIN2A GRN

Diseases (5) :OMIM:615369 ORPHA:163681 OMIM:254770 ORPHA:725 OMIM:614706

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