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:
Seizure (HP:0001250)

Parent Node:
Dialeptic seizure (HP:0011146)

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

..Starting node
..Generalized non-motor (absence) seizure (HP:0002121)

Term ID:

2121

Name:

Generalized non-motor (absence) seizure

Synonym:

Absence seizure; Absence seizures; Brief seizures with staring spells; Generalised non-motor (absence) seizure; Generalised non-motor seizure; Petit mal; Petit mal seizure; Petit mal seizures

Definition:

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

Comments:

Reference:

HP:0002121

Genes and Diseases:

Child Nodes:

........

Atypical absence seizures (HP:0007270)

................... HP:0011151 Obtundation status

........

Typical absence seizures (HP:0011147)

................... HP:0011152 Early onset absence seizures

........

Absence seizures with special features (HP:0011148)

................... HP:0011149 Absence seizures with eyelid myoclonia
................... HP:0011150 Myoclonic absences

Sister Nodes:

Atonic seizure (HP:0010819)

Bilateral tonic-clonic seizure (HP:0002069)

Generalized clonic seizure (HP:0011169)

Generalized myoclonic seizure (HP:0002123)

Generalized tonic seizure (HP:0010818)

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:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	530
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.	108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		78
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome		449
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	146
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome		227
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening	HP:0040283 - Occasional	44
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	44
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	.	51
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome		72
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.	153
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040283 - Occasional	153
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	153
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.	153
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep		4
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.	134
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	134
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome		57
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRD CL E G H	2563	4084	OMIM:613060	Epilepsy, idiopathic generalized, 10	.	10
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	10
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	10
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	139
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy		139
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent	33
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GDI1 CL E G H	2664	4226	OMIM:300849	MENTAL RETARDATION, X-LINKED 41; MRX41		20
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent	56
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep		434
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy		434
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10	.	54
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	54
HP:0002121	HP:0002121	Generalized non-motor (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		8
HP:0002121	HP:0002121	Generalized non-motor (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		8
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional	114
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional	528
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional	302
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	302
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100		5
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome		61
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare	183
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional	11
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	HP:0040284 - Very rare	89
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.	225
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional	94
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent	94
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.	3
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome		1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52		126
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.	126
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	126
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional	427
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	427
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional	357
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	318
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.	8
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent	255
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional	2
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	.	29
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent	19
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy		50
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	.	9
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040282 - Frequent	9
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.	123
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15		278
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002121	HP:0002121	Generalized non-motor (absence) seizure	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002121	HP:0011147	Typical absence seizure	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	88
HP:0002121	HP:0011147	Typical absence seizure	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0002121	HP:0011147	Typical absence seizure	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0002121	HP:0011147	Typical absence seizure	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0002121	HP:0007270	Atypical absence seizure	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002121	HP:0011149	Absence seizure with eyelid myoclonia	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002121	HP:0011147	Typical absence seizure	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0002121	HP:0007270	Atypical absence seizure	1	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	449
HP:0002121	HP:0011150	Myoclonic absence seizure	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0002121	HP:0011147	Typical absence seizure	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	75
HP:0002121	HP:0007270	Atypical absence seizure	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0002121	HP:0011147	Typical absence seizure	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0002121	HP:0011147	Typical absence seizure	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0002121	HP:0007270	Atypical absence seizure	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0002121	HP:0007270	Atypical absence seizure	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0002121	HP:0007270	Atypical absence seizure	1	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	227
HP:0002121	HP:0007270	Atypical absence seizure	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0002121	HP:0011147	Typical absence seizure	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0002121	HP:0007270	Atypical absence seizure	1	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0002121	HP:0011150	Myoclonic absence seizure	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002121	HP:0007270	Atypical absence seizure	1	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	72
HP:0002121	HP:0011147	Typical absence seizure	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0002121	HP:0011147	Typical absence seizure	1	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:0002121	HP:0011147	Typical absence seizure	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0002121	HP:0007270	Atypical absence seizure	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0002121	HP:0011147	Typical absence seizure	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002121	HP:0011150	Myoclonic absence seizure	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0002121	HP:0011147	Typical absence seizure	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0002121	HP:0007270	Atypical absence seizure	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	4
HP:0002121	HP:0011147	Typical absence seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	134
HP:0002121	HP:0011150	Myoclonic absence seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0002121	HP:0007270	Atypical absence seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0002121	HP:0011150	Myoclonic absence seizure	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0002121	HP:0011147	Typical absence seizure	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	57
HP:0002121	HP:0007270	Atypical absence seizure	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0002121	HP:0007270	Atypical absence seizure	1	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	57
HP:0002121	HP:0011150	Myoclonic absence seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0002121	HP:0011147	Typical absence seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	139
HP:0002121	HP:0007270	Atypical absence seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0002121	HP:0007270	Atypical absence seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	139
HP:0002121	HP:0011147	Typical absence seizure	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0002121	HP:0007270	Atypical absence seizure	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent	434
HP:0002121	HP:0011150	Myoclonic absence seizure	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0002121	HP:0011147	Typical absence seizure	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0002121	HP:0007270	Atypical absence seizure	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional	434
HP:0002121	HP:0007270	Atypical absence seizure	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	434
HP:0002121	HP:0011147	Typical absence seizure	1	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:0002121	HP:0011147	Typical absence seizure	1	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:0002121	HP:0007270	Atypical absence seizure	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0002121	HP:0011150	Myoclonic absence seizure	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0002121	HP:0011147	Typical absence seizure	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent
HP:0002121	HP:0007270	Atypical absence seizure	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0002121	HP:0007270	Atypical absence seizure	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0002121	HP:0011150	Myoclonic absence seizure	1	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0002121	HP:0007270	Atypical absence seizure	1	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0002121	HP:0007270	Atypical absence seizure	1	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	61
HP:0002121	HP:0007270	Atypical absence seizure	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0002121	HP:0007270	Atypical absence seizure	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0002121	HP:0007270	Atypical absence seizure	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0002121	HP:0007270	Atypical absence seizure	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0002121	HP:0011147	Typical absence seizure	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0002121	HP:0007270	Atypical absence seizure	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0002121	HP:0011147	Typical absence seizure	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	948
HP:0002121	HP:0011147	Typical absence seizure	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0002121	HP:0011150	Myoclonic absence seizure	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	1053
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.	126
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0002121	HP:0007270	Atypical absence seizure	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0002121	HP:0011150	Myoclonic absence seizure	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002121	HP:0011150	Myoclonic absence seizure	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0002121	HP:0011147	Typical absence seizure	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040281 - Very frequent	255
HP:0002121	HP:0007270	Atypical absence seizure	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	50
HP:0002121	HP:0011150	Myoclonic absence seizure	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0002121	HP:0011150	Myoclonic absence seizure	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0002121	HP:0007270	Atypical absence seizure	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0002121	HP:0007270	Atypical absence seizure	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0002121	HP:0011147	Typical absence seizure	1	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:0002121	HP:0007270	Atypical absence seizure	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0002121	HP:0007270	Atypical absence seizure	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0002121	HP:0011152	Early onset absence seizures	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0002121	HP:0011152	Early onset absence seizures	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0002121	HP:0011152	Early onset absence seizures	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0002121	HP:0011152	Early onset absence seizures	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6

Genes (145) :ADGRG1 ADGRV1 ADPRS AFF3 ALDH4A1 ALDH5A1 ALDH7A1 ALMS1 AP2M1 APC2 ARX ASAH1 ATAD3A ATP1A3 CACNA1A CACNA1H CACNB4 CAMK2A CASK CDK13 CDKL5 CEP85L CHD2 CIC CILK1 CLCN2 CLCN4 CLPB COL3A1 CSTB CUX2 DHDDS DHFR DMXL2 DNM1 DOCK7 DPM1 DPM3 DYRK1A ECM1 EEF1A2 EFHC1 EHMT1 EPM2A EZH2 FAR1 FBXO28 FRRS1L GABRA1 GABRB3 GABRD GABRG2 GATAD2B GDI1 GJA5 GJA8 GLUD1 GNAI1 GNAO1 GNB1 GOSR2 GPAA1 GPT2 GRIN1 GRIN2A GRM7 HCN1 HNRNPK HNRNPU JRK KCNA1 KCNB1 KCNC2 KCNMA1 KCNQ2 KCNQ3 KCNT2 KIF4A KPTN LAMA2 MAPK10 MECP2 MEGF8 MTHFR MYT1L NBEA NEUROD2 NEXMIF NFKB2 NGLY1 NHLRC1 NSD1 NUBPL NUS1 PAFAH1B1 PAK3 PCDH19 PGAP1 PHGDH PIGM PIGP PIGQ PIGT PLPBP PNKP PPP3CA PRRT2 PTEN RNU4ATAC RORB SATB1 SATB2 SCN1A SCN1B SCN2A SCN8A SCN9A SETD1B SETD2 SIK1 SLC12A5 SLC25A22 SLC2A1 SLC35A3 SLC6A1 SMARCA2 SMPD1 SON SPATA5 SPATA5L1 SRPX2 STX1B SYNGAP1 SZT2 TRIM8 TRMT10A TUBA1A TUBB2B TUBB3 UBE3A WAC WDR26 YWHAG ZBTB18 ZEB2

Diseases (139) :ORPHA:101070 ORPHA:36387 OMIM:618170 OMIM:619297 ORPHA:79101 OMIM:271980 ORPHA:3006 ORPHA:64 OMIM:618587 ORPHA:1942 ORPHA:821 ORPHA:1934 ORPHA:2590 OMIM:617183 OMIM:619606 ORPHA:2382 ORPHA:64280 OMIM:607682 OMIM:613855 ORPHA:307 OMIM:617798 OMIM:617360 OMIM:618873 OMIM:615369 OMIM:617600 OMIM:617924 OMIM:607628 ORPHA:485350 OMIM:619835 OMIM:618343 OMIM:254800 OMIM:618141 OMIM:617836 OMIM:613839 ORPHA:411986 ORPHA:79322 OMIM:618992 ORPHA:268261 OMIM:247100 OMIM:616409 OMIM:607631 ORPHA:1941 OMIM:254770 ORPHA:96147 ORPHA:501 OMIM:254780 OMIM:277590 OMIM:619338 OMIM:619777 ORPHA:725 ORPHA:33069 OMIM:615744 OMIM:612269 OMIM:617113 OMIM:613060 OMIM:607681 ORPHA:1945 ORPHA:363686 OMIM:300849 OMIM:612474 ORPHA:35878 OMIM:619854 OMIM:616973 OMIM:614018 OMIM:617810 OMIM:616281 ORPHA:208447 ORPHA:98818 OMIM:615871 OMIM:618482 ORPHA:352665 ORPHA:453504 OMIM:617391 OMIM:616056 OMIM:619913 OMIM:618596 ORPHA:79137 OMIM:618729 OMIM:609446 ORPHA:306 OMIM:617771 OMIM:300923 OMIM:615637 ORPHA:258 OMIM:300260 OMIM:614976 ORPHA:395 OMIM:616521 OMIM:619157 OMIM:300912 ORPHA:293978 ORPHA:404454 OMIM:618242 OMIM:617831 ORPHA:95232 OMIM:300558 OMIM:300088 ORPHA:101039 OMIM:615802 ORPHA:79351 OMIM:610293 ORPHA:369837 OMIM:615398 OMIM:617711 ORPHA:98811 ORPHA:2636 OMIM:618357 OMIM:619229 ORPHA:576283 OMIM:619317 OMIM:607208 OMIM:604403 OMIM:617350 OMIM:604233 OMIM:614558 OMIM:619000 OMIM:616685 OMIM:615553 ORPHA:370943 OMIM:616421 ORPHA:3051 ORPHA:77293 ORPHA:500150 ORPHA:457351 OMIM:619616 OMIM:616172 OMIM:612621 ORPHA:544254 OMIM:615476 OMIM:619428 OMIM:616033 ORPHA:467166 ORPHA:98795 ORPHA:466950 ORPHA:513456 OMIM:617665 OMIM:612337 ORPHA:261552 ORPHA:261537

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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