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 central focal spikes (HP:0012014)

Term ID:

12014

Name:

EEG with central focal spikes

Synonym:

Definition:

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

Comments:

Reference:

HP:0012014

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

EEG with temporal focal spikes (HP:0012018)

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:0012014	HP:0012014	EEG with central focal spikes	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0012014	HP:0012014	EEG with central focal spikes	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0012014	HP:0012014	EEG with central focal spikes	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0012014	HP:0012014	EEG with central focal spikes	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF

Genes (4) :ADGRG1 PI4KA SRPX2 TFE3

Diseases (2) :ORPHA:98889 OMIM:301066

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