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:
Dialeptic seizure (HP:0011146)

Grandparent Node:
Generalized-onset seizure (HP:0002197)

Parent Node:
Generalized non-motor (absence) seizure (HP:0002121)

..Starting node
..Typical absence seizure (HP:0011147)

Term ID:

11147

Name:

Typical absence seizure

Synonym:

Typical absence; Typical absence seizures

Definition:

A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.

Comments:

Reference:

HP:0011147

Genes and Diseases:

Child Nodes:

........

Early onset absence seizures (HP:0011152)

Sister Nodes:

Atypical absence seizure (HP:0007270)

obsolete Absence seizures with special features (HP:0011148)

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:0011147	HP:0011147	Typical absence seizure	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	88
HP:0011147	HP:0011147	Typical absence seizure	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0011147	HP:0011147	Typical absence seizure	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0011147	HP:0011147	Typical absence seizure	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0011147	HP:0011147	Typical absence seizure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0011147	HP:0011147	Typical absence seizure	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	75
HP:0011147	HP:0011147	Typical absence seizure	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0011147	HP:0011147	Typical absence seizure	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0011147	HP:0011147	Typical absence seizure	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0011147	HP:0011147	Typical absence seizure	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0011147	HP:0011147	Typical absence seizure	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0011147	HP:0011147	Typical absence seizure	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0011147	HP:0011147	Typical absence seizure	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011147	HP:0011147	Typical absence seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0011147	HP:0011147	Typical absence seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	134
HP:0011147	HP:0011147	Typical absence seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	57
HP:0011147	HP:0011147	Typical absence seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	139
HP:0011147	HP:0011147	Typical absence seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0011147	HP:0011147	Typical absence seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0011147	HP:0011147	Typical absence seizure	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0011147	HP:0011147	Typical absence seizure	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0011147	HP:0011147	Typical absence seizure	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent
HP:0011147	HP:0011147	Typical absence seizure	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0011147	HP:0011147	Typical absence seizure	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	948
HP:0011147	HP:0011147	Typical absence seizure	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0011147	HP:0011147	Typical absence seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	255
HP:0011147	HP:0011147	Typical absence seizure	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0011147	HP:0011152	Early onset absence seizures	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0011147	HP:0011152	Early onset absence seizures	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0011147	HP:0011152	Early onset absence seizures	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0011147	HP:0011152	Early onset absence seizures	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6

Genes (25) :ADGRG1 ALDH4A1 ALDH7A1 ALMS1 ASAH1 CACNA1H CACNB4 COL3A1 DPM1 DYRK1A EEF1A2 FBXO28 FRRS1L GABRA1 GABRB3 GABRG2 GRIN1 GRIN2A HNRNPK JRK PLPBP PTEN SATB2 SLC2A1 WAC

Diseases (19) :ORPHA:101070 ORPHA:79101 ORPHA:3006 ORPHA:64 ORPHA:2590 ORPHA:64280 OMIM:607682 OMIM:613855 OMIM:618343 ORPHA:79322 ORPHA:268261 OMIM:616409 OMIM:619777 ORPHA:725 ORPHA:208447 ORPHA:352665 ORPHA:453504 ORPHA:576283 ORPHA:466950

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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