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:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Seizure (HP:0001250)

..Starting node
..Symptomatic seizures (HP:0011145)

Term ID:

11145

Name:

Symptomatic seizures

Synonym:

Definition:

A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.

Comments:

Reference:

HP:0011145

Genes and Diseases:

Child Nodes:

........

Hypoglycemic seizures (HP:0002173)

........

Hypocalcemic seizures (HP:0002199)

Sister Nodes:

Dialeptic seizure (HP:0011146)

Epileptic spasm (HP:0011097)

Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)

Focal-onset seizure (HP:0007359)

Generalized-onset seizure (HP:0002197)

Multifocal seizures (HP:0031165)

Status epilepticus (HP:0002133)

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:0011145	HP:0011145	Symptomatic seizures	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0011145	HP:0011145	Symptomatic seizures	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0011145	HP:0011145	Symptomatic seizures	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0011145	HP:0011145	Symptomatic seizures	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0011145	HP:0011145	Symptomatic seizures	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0011145	HP:0011145	Symptomatic seizures	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0011145	HP:0011145	Symptomatic seizures	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0011145	HP:0011145	Symptomatic seizures	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0011145	HP:0011145	Symptomatic seizures	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0011145	HP:0011145	Symptomatic seizures	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011145	HP:0011145	Symptomatic seizures	0	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0011145	HP:0011145	Symptomatic seizures	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0011145	HP:0011145	Symptomatic seizures	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0011145	HP:0011145	Symptomatic seizures	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0011145	HP:0011145	Symptomatic seizures	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0011145	HP:0011145	Symptomatic seizures	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0011145	HP:0011145	Symptomatic seizures	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4		41
HP:0011145	HP:0011145	Symptomatic seizures	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0011145	HP:0011145	Symptomatic seizures	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0011145	HP:0011145	Symptomatic seizures	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0011145	HP:0011145	Symptomatic seizures	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0011145	HP:0011145	Symptomatic seizures	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0011145	HP:0011145	Symptomatic seizures	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0011145	HP:0011145	Symptomatic seizures	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0011145	HP:0011145	Symptomatic seizures	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0011145	HP:0011145	Symptomatic seizures	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011145	HP:0011145	Symptomatic seizures	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0011145	HP:0011145	Symptomatic seizures	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0011145	HP:0011145	Symptomatic seizures	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2		54
HP:0011145	HP:0011145	Symptomatic seizures	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0011145	HP:0011145	Symptomatic seizures	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0011145	HP:0011145	Symptomatic seizures	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0011145	HP:0011145	Symptomatic seizures	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0011145	HP:0011145	Symptomatic seizures	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0011145	HP:0011145	Symptomatic seizures	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0011145	HP:0011145	Symptomatic seizures	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0011145	HP:0011145	Symptomatic seizures	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0011145	HP:0011145	Symptomatic seizures	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0011145	HP:0011145	Symptomatic seizures	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0011145	HP:0011145	Symptomatic seizures	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0011145	HP:0011145	Symptomatic seizures	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0011145	HP:0011145	Symptomatic seizures	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0011145	HP:0002173	Hypoglycemic seizures	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0011145	HP:0002173	Hypoglycemic seizures	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0011145	HP:0002173	Hypoglycemic seizures	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0011145	HP:0002199	Hypocalcemic seizures	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:0011145	HP:0002199	Hypocalcemic seizures	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0011145	HP:0002199	Hypocalcemic seizures	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:0011145	HP:0002199	Hypocalcemic seizures	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0011145	HP:0002173	Hypoglycemic seizures	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040281 - Very frequent	51
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GCM2 CL E G H	9247	4198	OMIM:618883	HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2		51
HP:0011145	HP:0002173	Hypoglycemic seizures	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	101
HP:0011145	HP:0002199	Hypocalcemic seizures	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0011145	HP:0002173	Hypoglycemic seizures	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0011145	HP:0002173	Hypoglycemic seizures	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0011145	HP:0002173	Hypoglycemic seizures	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0011145	HP:0002173	Hypoglycemic seizures	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0011145	HP:0002173	Hypoglycemic seizures	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0011145	HP:0002173	Hypoglycemic seizures	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0011145	HP:0002173	Hypoglycemic seizures	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0011145	HP:0002173	Hypoglycemic seizures	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0011145	HP:0002173	Hypoglycemic seizures	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0011145	HP:0002173	Hypoglycemic seizures	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0011145	HP:0002173	Hypoglycemic seizures	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0011145	HP:0002173	Hypoglycemic seizures	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0011145	HP:0002173	Hypoglycemic seizures	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0011145	HP:0002173	Hypoglycemic seizures	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0011145	HP:0002199	Hypocalcemic seizures	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0011145	HP:0002173	Hypoglycemic seizures	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0011145	HP:0002173	Hypoglycemic seizures	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0011145	HP:0002173	Hypoglycemic seizures	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0011145	HP:0002199	Hypocalcemic seizures	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040284 - Very rare	86
HP:0011145	HP:0002173	Hypoglycemic seizures	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011145	HP:0002199	Hypocalcemic seizures	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040281 - Very frequent	52
HP:0011145	HP:0002199	Hypocalcemic seizures	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0011145	HP:0002173	Hypoglycemic seizures	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent	57
HP:0011145	HP:0002199	Hypocalcemic seizures	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0011145	HP:0002173	Hypoglycemic seizures	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0011145	HP:0002173	Hypoglycemic seizures	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15
HP:0011145	HP:0002199	Hypocalcemic seizures	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (33) :ABCC8 AKT2 CYP27B1 CYP2R1 FAM111A GATA3 GCK GCM2 GLUD1 GNAS HADH HNF1A INSR KCNJ11 MC2R MRAP NNT PCSK1 POGZ POMC PROP1 PTH SLC16A1 SLC37A4 STAR STX16 TANGO2 TBCE TBX19 TNFRSF11A TXNRD2 UCP2 VDR

Diseases (36) :ORPHA:276575 OMIM:256450 ORPHA:293964 ORPHA:289157 OMIM:264700 ORPHA:93325 ORPHA:2237 OMIM:602485 ORPHA:2239 OMIM:618883 OMIM:606762 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:231530 OMIM:609975 ORPHA:71212 ORPHA:324575 OMIM:609968 ORPHA:276580 ORPHA:361 ORPHA:71528 OMIM:616364 ORPHA:71526 OMIM:609734 OMIM:262600 OMIM:146200 OMIM:610021 ORPHA:79259 ORPHA:480864 ORPHA:93324 OMIM:241410 ORPHA:199296 OMIM:612301 ORPHA:276556 OMIM:277440

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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