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 focal epileptiform discharges (HP:0011185)

Parent Node:
EEG with focal spikes (HP:0011193)

..Starting node
..EEG with temporal focal spikes (HP:0012018)

Term ID:

12018

Name:

EEG with temporal focal spikes

Synonym:

Definition:

EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.

Comments:

Reference:

HP:0012018

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with central focal spikes (HP:0012014)

EEG with frontal focal spikes (HP:0012015)

EEG with occipital focal spikes (HP:0012016)

EEG with parietal focal spikes (HP:0012017)

EEG with series of focal spikes (HP:0011194)

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:0012018	HP:0012018	EEG with temporal focal spikes	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent	45
HP:0012018	HP:0012018	EEG with temporal focal spikes	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0012018	HP:0012018	EEG with temporal focal spikes	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434

Genes (3) :ARHGEF9 GNB1 GRIN2A

Diseases (3) :ORPHA:163985 OMIM:616973 ORPHA:98818

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