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:
Generalized-onset seizure (HP:0002197)

Parent Node:
Generalized myoclonic seizure (HP:0002123)

..Starting node
..Photosensitive myoclonic seizure (HP:0001327)

Term ID:

1327

Name:

Photosensitive myoclonic seizure

Synonym:

Photically induced myoclonic seizure; Photomyoclonic seizure; Photomyoclonic seizures

Definition:

Generalised myoclonic seizure provoked by flashing or flickering light.

Comments:

Reference:

HP:0001327

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized myoclonic-atonic seizure (HP:0011170)

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:0001327	HP:0001327	Photosensitive myoclonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional	106
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0001327	HP:0001327	Photosensitive myoclonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318

Genes (8) :GABRA1 GABRG2 KCTD7 PCDH19 SCN1A SCN1B SCN2A SCN9A

Diseases (2) :ORPHA:33069 ORPHA:263516

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