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

..Starting node
..EEG with parietal epileptiform discharges (HP:0033719)

Term ID:

33719

Name:

EEG with parietal epileptiform discharges

Synonym:

Definition:

Focal epileptiform EEG discharges recorded in the parietal region.

Comments:

Reference:

HP:0033719

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0033719	HP:0033719	EEG with parietal epileptiform discharges	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0033719	HP:0011288	EEG with parietal sharp slow waves	1	CL E G H
HP:0033719	HP:0012017	EEG with parietal focal spikes	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0033719	HP:0012017	EEG with parietal focal spikes	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0033719	HP:0012017	EEG with parietal focal spikes	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0033719	HP:0012012	EEG with parietal focal spike waves	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271
HP:0033719	HP:0011295	EEG with parietal sharp waves	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271
HP:0033719	HP:0012017	EEG with parietal focal spikes	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF

Genes (6) :ADGRG1 PI4KA SRPX2 TBC1D24 TFE3 TRIM8

Diseases (4) :ORPHA:98889 ORPHA:163727 OMIM:301066 OMIM:619428

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

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