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:
Bilateral tonic-clonic seizure (HP:0002069)

..Starting node
..Photosensitive tonic-clonic seizure (HP:0007207)

Term ID:

7207

Name:

Photosensitive tonic-clonic seizure

Synonym:

Photically induced tonic-clonic seizure; Photosensitive tonic-clonic seizures; Seizures, tonic-clonic, photosensitive

Definition:

Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.

Comments:

Reference:

HP:0007207

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral tonic-clonic seizure on awakening (HP:0007193)

Bilateral tonic-clonic seizure with focal onset (HP:0007334)

Bilateral tonic-clonic seizure with generalized onset (HP:0025190)

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:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	146
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	44
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	153
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	134
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	10
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	302
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0007207	HP:0007207	Photosensitive tonic-clonic seizure	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93

Genes (15) :CACNB4 CILK1 CLCN2 EFHC1 GABRA1 GABRD GABRG2 JRK KCNQ3 PCDH19 SCN1A SCN1B SCN2A SCN9A SLC9A6

Diseases (3) :ORPHA:307 ORPHA:33069 OMIM:300243

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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