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 emotion/affect behavior (HP:0100851)

Parent Node:
Abnormal aggressive, impulsive or violent behavior (HP:0006919)

..Starting node
..Aggressive behavior (HP:0000718)

Term ID:

718

Name:

Aggressive behavior

Synonym:

Aggression; Aggressive behavior; Aggressive behaviour; Aggressiveness; physical aggression

Definition:

Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.

Comments:

Reference:

HP:0000718

Genes and Diseases:

Child Nodes:

Sister Nodes:

Self-injurious behavior (HP:0100716)

Violent behavior (HP:0008760)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000718	HP:0000718	Aggressive behavior	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000718	HP:0000718	Aggressive behavior	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0000718	HP:0000718	Aggressive behavior	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	HP:0040284 - Very rare		9
HP:0000718	HP:0000718	Aggressive behavior	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000718	HP:0000718	Aggressive behavior	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000718	HP:0000718	Aggressive behavior	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0000718	HP:0000718	Aggressive behavior	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0000718	HP:0000718	Aggressive behavior	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000718	HP:0000718	Aggressive behavior	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0000718	HP:0000718	Aggressive behavior	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0000718	HP:0000718	Aggressive behavior	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0000718	HP:0000718	Aggressive behavior	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0000718	HP:0000718	Aggressive behavior	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent		176
HP:0000718	HP:0000718	Aggressive behavior	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0000718	HP:0000718	Aggressive behavior	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000718	HP:0000718	Aggressive behavior	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000718	HP:0000718	Aggressive behavior	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent		13
HP:0000718	HP:0000718	Aggressive behavior	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0000718	HP:0000718	Aggressive behavior	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0000718	HP:0000718	Aggressive behavior	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0000718	HP:0000718	Aggressive behavior	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0000718	HP:0000718	Aggressive behavior	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000718	HP:0000718	Aggressive behavior	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0000718	HP:0000718	Aggressive behavior	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000718	HP:0000718	Aggressive behavior	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.		100
HP:0000718	HP:0000718	Aggressive behavior	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000718	HP:0000718	Aggressive behavior	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0000718	HP:0000718	Aggressive behavior	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0000718	HP:0000718	Aggressive behavior	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0000718	HP:0000718	Aggressive behavior	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0000718	HP:0000718	Aggressive behavior	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional		8
HP:0000718	HP:0000718	Aggressive behavior	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000718	HP:0000718	Aggressive behavior	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0000718	HP:0000718	Aggressive behavior	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000718	HP:0000718	Aggressive behavior	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000718	HP:0000718	Aggressive behavior	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0000718	HP:0000718	Aggressive behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0000718	HP:0000718	Aggressive behavior	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0000718	HP:0000718	Aggressive behavior	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0000718	HP:0000718	Aggressive behavior	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		146
HP:0000718	HP:0000718	Aggressive behavior	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000718	HP:0000718	Aggressive behavior	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0000718	HP:0000718	Aggressive behavior	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0000718	HP:0000718	Aggressive behavior	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000718	HP:0000718	Aggressive behavior	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.		146
HP:0000718	HP:0000718	Aggressive behavior	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000718	HP:0000718	Aggressive behavior	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000718	HP:0000718	Aggressive behavior	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0000718	HP:0000718	Aggressive behavior	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000718	HP:0000718	Aggressive behavior	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000718	HP:0000718	Aggressive behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0000718	HP:0000718	Aggressive behavior	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0000718	HP:0000718	Aggressive behavior	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare
HP:0000718	HP:0000718	Aggressive behavior	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		44
HP:0000718	HP:0000718	Aggressive behavior	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000718	HP:0000718	Aggressive behavior	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0000718	HP:0000718	Aggressive behavior	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000718	HP:0000718	Aggressive behavior	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0000718	HP:0000718	Aggressive behavior	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0000718	HP:0000718	Aggressive behavior	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0000718	HP:0000718	Aggressive behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0000718	HP:0000718	Aggressive behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000718	HP:0000718	Aggressive behavior	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000718	HP:0000718	Aggressive behavior	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000718	HP:0000718	Aggressive behavior	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0000718	HP:0000718	Aggressive behavior	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0000718	HP:0000718	Aggressive behavior	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0000718	HP:0000718	Aggressive behavior	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0000718	HP:0000718	Aggressive behavior	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0000718	HP:0000718	Aggressive behavior	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000718	HP:0000718	Aggressive behavior	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent		57
HP:0000718	HP:0000718	Aggressive behavior	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0000718	HP:0000718	Aggressive behavior	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent		33
HP:0000718	HP:0000718	Aggressive behavior	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0000718	HP:0000718	Aggressive behavior	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000718	HP:0000718	Aggressive behavior	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000718	HP:0000718	Aggressive behavior	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000718	HP:0000718	Aggressive behavior	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000718	HP:0000718	Aggressive behavior	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0000718	HP:0000718	Aggressive behavior	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare		44
HP:0000718	HP:0000718	Aggressive behavior	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0000718	HP:0000718	Aggressive behavior	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000718	HP:0000718	Aggressive behavior	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000718	HP:0000718	Aggressive behavior	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0000718	HP:0000718	Aggressive behavior	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000718	HP:0000718	Aggressive behavior	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0000718	HP:0000718	Aggressive behavior	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:0000718	HP:0000718	Aggressive behavior	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040283 - Occasional		51
HP:0000718	HP:0000718	Aggressive behavior	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.		14
HP:0000718	HP:0000718	Aggressive behavior	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0000718	HP:0000718	Aggressive behavior	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0000718	HP:0000718	Aggressive behavior	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		153
HP:0000718	HP:0000718	Aggressive behavior	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	HP:0040282 - Frequent		223
HP:0000718	HP:0000718	Aggressive behavior	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0000718	HP:0000718	Aggressive behavior	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.		6
HP:0000718	HP:0000718	Aggressive behavior	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0000718	HP:0000718	Aggressive behavior	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive	.		3
HP:0000718	HP:0000718	Aggressive behavior	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000718	HP:0000718	Aggressive behavior	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000718	HP:0000718	Aggressive behavior	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000718	HP:0000718	Aggressive behavior	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000718	HP:0000718	Aggressive behavior	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent		47
HP:0000718	HP:0000718	Aggressive behavior	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000718	HP:0000718	Aggressive behavior	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.		111
HP:0000718	HP:0000718	Aggressive behavior	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional		55
HP:0000718	HP:0000718	Aggressive behavior	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0000718	HP:0000718	Aggressive behavior	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000718	HP:0000718	Aggressive behavior	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000718	HP:0000718	Aggressive behavior	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0000718	HP:0000718	Aggressive behavior	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0000718	HP:0000718	Aggressive behavior	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		134
HP:0000718	HP:0000718	Aggressive behavior	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0000718	HP:0000718	Aggressive behavior	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		10
HP:0000718	HP:0000718	Aggressive behavior	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0000718	HP:0000718	Aggressive behavior	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional		91
HP:0000718	HP:0000718	Aggressive behavior	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0000718	HP:0000718	Aggressive behavior	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0000718	HP:0000718	Aggressive behavior	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000718	HP:0000718	Aggressive behavior	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000718	HP:0000718	Aggressive behavior	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94	.		30
HP:0000718	HP:0000718	Aggressive behavior	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000718	HP:0000718	Aggressive behavior	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000718	HP:0000718	Aggressive behavior	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0000718	HP:0000718	Aggressive behavior	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0000718	HP:0000718	Aggressive behavior	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0000718	HP:0000718	Aggressive behavior	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0000718	HP:0000718	Aggressive behavior	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000718	HP:0000718	Aggressive behavior	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000718	HP:0000718	Aggressive behavior	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000718	HP:0000718	Aggressive behavior	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000718	HP:0000718	Aggressive behavior	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000718	HP:0000718	Aggressive behavior	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0000718	HP:0000718	Aggressive behavior	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0000718	HP:0000718	Aggressive behavior	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0000718	HP:0000718	Aggressive behavior	0	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000718	HP:0000718	Aggressive behavior	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0000718	HP:0000718	Aggressive behavior	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000718	HP:0000718	Aggressive behavior	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0000718	HP:0000718	Aggressive behavior	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare
HP:0000718	HP:0000718	Aggressive behavior	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		302
HP:0000718	HP:0000718	Aggressive behavior	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	HP:0040283 - Occasional		321
HP:0000718	HP:0000718	Aggressive behavior	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000718	HP:0000718	Aggressive behavior	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000718	HP:0000718	Aggressive behavior	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000718	HP:0000718	Aggressive behavior	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000718	HP:0000718	Aggressive behavior	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040282 - Frequent		81
HP:0000718	HP:0000718	Aggressive behavior	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional		46
HP:0000718	HP:0000718	Aggressive behavior	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0000718	HP:0000718	Aggressive behavior	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0000718	HP:0000718	Aggressive behavior	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0000718	HP:0000718	Aggressive behavior	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0000718	HP:0000718	Aggressive behavior	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0000718	HP:0000718	Aggressive behavior	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0000718	HP:0000718	Aggressive behavior	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	HP:0040283 - Occasional		25
HP:0000718	HP:0000718	Aggressive behavior	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0000718	HP:0000718	Aggressive behavior	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000718	HP:0000718	Aggressive behavior	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000718	HP:0000718	Aggressive behavior	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0000718	HP:0000718	Aggressive behavior	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0000718	HP:0000718	Aggressive behavior	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000718	HP:0000718	Aggressive behavior	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0000718	HP:0000718	Aggressive behavior	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0000718	HP:0000718	Aggressive behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000718	HP:0000718	Aggressive behavior	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent		950
HP:0000718	HP:0000718	Aggressive behavior	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000718	HP:0000718	Aggressive behavior	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000718	HP:0000718	Aggressive behavior	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0000718	HP:0000718	Aggressive behavior	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000718	HP:0000718	Aggressive behavior	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000718	HP:0000718	Aggressive behavior	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000718	HP:0000718	Aggressive behavior	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0000718	HP:0000718	Aggressive behavior	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000718	HP:0000718	Aggressive behavior	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0000718	HP:0000718	Aggressive behavior	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0000718	HP:0000718	Aggressive behavior	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000718	HP:0000718	Aggressive behavior	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0000718	HP:0000718	Aggressive behavior	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0000718	HP:0000718	Aggressive behavior	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0000718	HP:0000718	Aggressive behavior	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000718	HP:0000718	Aggressive behavior	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0000718	HP:0000718	Aggressive behavior	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	HP:0040284 - Very rare		1
HP:0000718	HP:0000718	Aggressive behavior	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000718	HP:0000718	Aggressive behavior	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0000718	HP:0000718	Aggressive behavior	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000718	HP:0000718	Aggressive behavior	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000718	HP:0000718	Aggressive behavior	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0000718	HP:0000718	Aggressive behavior	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000718	HP:0000718	Aggressive behavior	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000718	HP:0000718	Aggressive behavior	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000718	HP:0000718	Aggressive behavior	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040282 - Frequent		34
HP:0000718	HP:0000718	Aggressive behavior	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000718	HP:0000718	Aggressive behavior	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000718	HP:0000718	Aggressive behavior	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0000718	HP:0000718	Aggressive behavior	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000718	HP:0000718	Aggressive behavior	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000718	HP:0000718	Aggressive behavior	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.		225
HP:0000718	HP:0000718	Aggressive behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0000718	HP:0000718	Aggressive behavior	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000718	HP:0000718	Aggressive behavior	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000718	HP:0000718	Aggressive behavior	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000718	HP:0000718	Aggressive behavior	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0000718	HP:0000718	Aggressive behavior	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0000718	HP:0000718	Aggressive behavior	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000718	HP:0000718	Aggressive behavior	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000718	HP:0000718	Aggressive behavior	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000718	HP:0000718	Aggressive behavior	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0000718	HP:0000718	Aggressive behavior	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000718	HP:0000718	Aggressive behavior	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0000718	HP:0000718	Aggressive behavior	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0000718	HP:0000718	Aggressive behavior	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.		13
HP:0000718	HP:0000718	Aggressive behavior	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		94
HP:0000718	HP:0000718	Aggressive behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0000718	HP:0000718	Aggressive behavior	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000718	HP:0000718	Aggressive behavior	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		4
HP:0000718	HP:0000718	Aggressive behavior	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.		34
HP:0000718	HP:0000718	Aggressive behavior	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000718	HP:0000718	Aggressive behavior	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000718	HP:0000718	Aggressive behavior	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000718	HP:0000718	Aggressive behavior	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.		68
HP:0000718	HP:0000718	Aggressive behavior	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0000718	HP:0000718	Aggressive behavior	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0000718	HP:0000718	Aggressive behavior	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000718	HP:0000718	Aggressive behavior	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0000718	HP:0000718	Aggressive behavior	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0000718	HP:0000718	Aggressive behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0000718	HP:0000718	Aggressive behavior	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0000718	HP:0000718	Aggressive behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0000718	HP:0000718	Aggressive behavior	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0000718	HP:0000718	Aggressive behavior	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000718	HP:0000718	Aggressive behavior	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000718	HP:0000718	Aggressive behavior	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0000718	HP:0000718	Aggressive behavior	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0000718	HP:0000718	Aggressive behavior	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0000718	HP:0000718	Aggressive behavior	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000718	HP:0000718	Aggressive behavior	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000718	HP:0000718	Aggressive behavior	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000718	HP:0000718	Aggressive behavior	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0000718	HP:0000718	Aggressive behavior	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0000718	HP:0000718	Aggressive behavior	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		255
HP:0000718	HP:0000718	Aggressive behavior	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0000718	HP:0000718	Aggressive behavior	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000718	HP:0000718	Aggressive behavior	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0000718	HP:0000718	Aggressive behavior	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent		12
HP:0000718	HP:0000718	Aggressive behavior	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0000718	HP:0000718	Aggressive behavior	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.		58
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000718	HP:0000718	Aggressive behavior	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0000718	HP:0000718	Aggressive behavior	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0000718	HP:0000718	Aggressive behavior	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000718	HP:0000718	Aggressive behavior	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0000718	HP:0000718	Aggressive behavior	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0000718	HP:0000718	Aggressive behavior	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000718	HP:0000718	Aggressive behavior	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0000718	HP:0000718	Aggressive behavior	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000718	HP:0000718	Aggressive behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0000718	HP:0000718	Aggressive behavior	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000718	HP:0000718	Aggressive behavior	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000718	HP:0000718	Aggressive behavior	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000718	HP:0000718	Aggressive behavior	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000718	HP:0000718	Aggressive behavior	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0000718	HP:0000718	Aggressive behavior	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.		58
HP:0000718	HP:0000718	Aggressive behavior	0	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0040281 - Very frequent		58
HP:0000718	HP:0000718	Aggressive behavior	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0000718	HP:0000718	Aggressive behavior	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0000718	HP:0000718	Aggressive behavior	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0000718	HP:0000718	Aggressive behavior	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000718	HP:0000718	Aggressive behavior	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0000718	HP:0000718	Aggressive behavior	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent		33
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0000718	HP:0000718	Aggressive behavior	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0000718	HP:0000718	Aggressive behavior	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0000718	HP:0000718	Aggressive behavior	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0000718	HP:0000718	Aggressive behavior	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0000718	HP:0000718	Aggressive behavior	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0000718	HP:0000718	Aggressive behavior	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000718	HP:0000718	Aggressive behavior	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0000718	HP:0000718	Aggressive behavior	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0000718	HP:0000718	Aggressive behavior	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0000718	HP:0000718	Aggressive behavior	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0000718	HP:0000718	Aggressive behavior	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000718	HP:0000718	Aggressive behavior	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0000718	HP:0000718	Aggressive behavior	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0000718	HP:0000718	Aggressive behavior	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0000718	HP:0000718	Aggressive behavior	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0000718	HP:0000718	Aggressive behavior	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0000718	HP:0000718	Aggressive behavior	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0000718	HP:0000718	Aggressive behavior	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional		1
HP:0000718	HP:0000718	Aggressive behavior	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0000718	HP:0000718	Aggressive behavior	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.		8
HP:0000718	HP:0000718	Aggressive behavior	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000718	HP:0000718	Aggressive behavior	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000718	HP:0000718	Aggressive behavior	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0000718	HP:0000718	Aggressive behavior	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0000718	HP:0000718	Aggressive behavior	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0000718	HP:0000718	Aggressive behavior	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0000718	HP:0000718	Aggressive behavior	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0000718	HP:0000718	Aggressive behavior	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0000718	HP:0000718	Aggressive behavior	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent		20
HP:0000718	HP:0000718	Aggressive behavior	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:0000718	HP:0000718	Aggressive behavior	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000718	HP:0000718	Aggressive behavior	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0000718	HP:0000718	Aggressive behavior	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0000718	HP:0000718	Aggressive behavior	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040283 - Occasional		51
HP:0000718	HP:0000718	Aggressive behavior	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	HP:0040283 - Occasional		51
HP:0000718	HP:0000718	Aggressive behavior	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0000718	HP:0000718	Aggressive behavior	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000718	HP:0000718	Aggressive behavior	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000718	HP:0000718	Aggressive behavior	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24

Genes (268) :ABCA2 ADAT3 ADNP ADSL AFF2 AGO2 ALDH4A1 ALDH5A1 ALG14 AMT ANK3 AP1G1 AP1S2 APC2 ARID1A ARID1B ARID2 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATP7B ATXN10 BCAP31 BCOR BCORL1 BPTF BRF1 C12ORF4 C9ORF72 CACNA1A CACNB4 CAMK2B CAMTA1 CDC42BPB CEP152 CEP290 CEP85L CHD2 CHD5 CHKA CHMP2B CILK1 CLCN2 CLCN4 CLN3 CLN5 CNTNAP2 CREBBP CTNNB1 CUL4B CUX2 CYP27A1 DCDC2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DNM1 DNMT3A DPAGT1 DPF2 DPYD DPYSL5 DYNC1I2 DYRK1A EBP ECM1 EEF1A2 EFHC1 EHMT1 EIF2S3 ELP2 ENTPD1 EP300 ESS2 FBXL3 FBXW11 FGF14 FIG4 FMO3 FMR1 FOXP1 FRMPD4 FRRS1L FTSJ1 GABRA1 GABRB3 GABRD GAMT GCSH GLDC GNB1 GNS GRIA3 GRIK2 GRIN2A GRN HDAC4 HDC HEPHL1 HERC2 HIVEP2 HNRNPH2 HSD17B10 HTRA1 HTT IFNG IMPA1 INPP5E IQSEC1 IQSEC2 JRK KCNQ3 KCNT1 KDM3B KDM4B KDM5B KDM5C KIF11 KMT2A KMT2E KMT5B KNL1 LEPR LINGO1 LINS1 LMAN2L MAB21L1 MAN1B1 MANBA MAOA MAPK1 MAPK10 MAPT MBD5 MECP2 MED12 MED12L MED13L MED25 METTL5 MGAT2 MYT1L NAA10 NAGLU NAGS NAXD NBEA NDP NDST1 NEXMIF NFASC NFIB NKAP NONO NRCAM NSD1 NSD2 NSDHL OCRL ODC1 PACS1 PAK3 PCDH19 PDE2A PHIP PIDD1 PIGH PIGY PLA2G6 POGZ POU4F1 PPP2R5D PRKAR1B PRNP PRODH PRRT2 PSEN1 PSMB1 PSMD12 PTCHD1 PUS3 PUS7 PYCR2 RBBP8 RLIM RORB RUSC2 SARS1 SASS6 SATB2 SCN1A SETBP1 SETD1A SETD2 SH2B1 SHANK3 SHMT2 SIN3A SLC1A3 SLC25A13 SLC2A1 SLC2A3 SLC52A2 SLC6A17 SLC6A8 SLITRK1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX5 SPAST SPEN SPR SPTBN1 SQSTM1 SRCAP STEEP1 STT3A SUCLG1 SYN1 TBP TBX1 TCF20 TCF4 TFE3 TIMM50 TMEM106B TMEM147 TMEM222 TMEM231 TMEM240 TMEM67 TRAPPC10 TREM2 TRIO TRIP12 TSC1 TSC2 TTC19 TTC5 TTI2 TYROBP UBE2A UBE4A UBTF UQCC2 UROC1 USP7 USP9X VCP VPS13A VPS16 WAC WARS2 WDR45 WDR62 ZBTB20 ZMIZ1 ZMYND11

Diseases (270) :OMIM:618808 ORPHA:363528 OMIM:615286 ORPHA:404448 OMIM:103050 ORPHA:100973 OMIM:309548 OMIM:619149 ORPHA:79101 OMIM:271980 OMIM:619031 OMIM:605899 ORPHA:356996 OMIM:615493 OMIM:619467 OMIM:619548 ORPHA:85335 ORPHA:85329 ORPHA:821 ORPHA:1465 OMIM:135900 OMIM:620141 OMIM:606693 OMIM:617225 ORPHA:2131 ORPHA:905 ORPHA:98761 ORPHA:369939 OMIM:309800 OMIM:301029 ORPHA:529962 OMIM:616202 OMIM:618221 ORPHA:275864 ORPHA:2382 ORPHA:307 OMIM:617799 OMIM:614756 ORPHA:314647 OMIM:619841 OMIM:614852 OMIM:610188 OMIM:618873 OMIM:619873 OMIM:620023 OMIM:600795 ORPHA:485350 OMIM:300114 ORPHA:228346 ORPHA:228360 ORPHA:163681 OMIM:610042 ORPHA:353281 ORPHA:353277 OMIM:615075 ORPHA:404473 OMIM:300354 ORPHA:85293 ORPHA:909 ORPHA:84081 OMIM:300958 ORPHA:457260 OMIM:617171 ORPHA:468620 OMIM:615828 OMIM:192430 OMIM:270400 ORPHA:404443 OMIM:608093 ORPHA:86309 ORPHA:293948 OMIM:619435 OMIM:618492 ORPHA:268261 ORPHA:401973 OMIM:247100 OMIM:616409 OMIM:616393 OMIM:610253 OMIM:300148 OMIM:617270 ORPHA:401810 OMIM:615683 ORPHA:353284 OMIM:606220 OMIM:618914 ORPHA:98764 ORPHA:208441 OMIM:612691 ORPHA:468726 ORPHA:449291 OMIM:613670 OMIM:300983 ORPHA:725 OMIM:309549 OMIM:612736 ORPHA:382 OMIM:616973 OMIM:252940 OMIM:300699 ORPHA:364028 OMIM:619580 ORPHA:98818 OMIM:600430 OMIM:137580 OMIM:261990 OMIM:615516 OMIM:616977 OMIM:300986 OMIM:300438 ORPHA:199354 ORPHA:399 ORPHA:805 OMIM:617323 OMIM:213300 ORPHA:75858 OMIM:618687 OMIM:309530 OMIM:615005 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:300534 ORPHA:85279 OMIM:152950 ORPHA:319182 OMIM:605130 OMIM:618512 OMIM:617788 OMIM:604321 OMIM:614963 OMIM:618103 OMIM:614340 OMIM:616887 OMIM:618479 OMIM:614202 OMIM:248510 OMIM:300615 OMIM:619087 OMIM:156200 ORPHA:3077 OMIM:309520 OMIM:618872 ORPHA:369891 ORPHA:464738 OMIM:618665 OMIM:212066 OMIM:616521 OMIM:252920 OMIM:237310 OMIM:618321 OMIM:619157 OMIM:310600 OMIM:616116 OMIM:300912 OMIM:618356 OMIM:618286 OMIM:301039 ORPHA:466791 OMIM:300967 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:309000 OMIM:619075 ORPHA:544488 OMIM:615009 OMIM:300558 OMIM:300088 ORPHA:101039 OMIM:619150 OMIM:617991 OMIM:619827 OMIM:618010 OMIM:616809 OMIM:612953 OMIM:616364 ORPHA:468678 ORPHA:457279 OMIM:619680 OMIM:137440 OMIM:603218 OMIM:239500 ORPHA:98811 OMIM:620038 OMIM:300830 ORPHA:488627 OMIM:618342 ORPHA:481152 OMIM:251255 OMIM:300978 OMIM:618357 OMIM:617773 OMIM:617709 OMIM:616402 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:616078 OMIM:619056 OMIM:616831 ORPHA:329249 OMIM:606232 OMIM:619121 OMIM:613406 ORPHA:247585 OMIM:614707 OMIM:616269 ORPHA:457212 OMIM:300352 OMIM:601358 OMIM:618362 ORPHA:313892 OMIM:182601 OMIM:619312 OMIM:612716 OMIM:619475 OMIM:136140 ORPHA:2044 OMIM:301013 OMIM:619714 ORPHA:17 OMIM:300491 ORPHA:85294 OMIM:607136 OMIM:618430 ORPHA:2896 OMIM:301066 ORPHA:505216 OMIM:617698 OMIM:620075 OMIM:619470 OMIM:614970 OMIM:607454 OMIM:620027 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:617752 OMIM:615157 OMIM:619244 OMIM:615541 ORPHA:391307 OMIM:221770 OMIM:300860 ORPHA:163956 OMIM:619639 ORPHA:500180 OMIM:615824 OMIM:276880 ORPHA:500055 OMIM:616863 OMIM:300919 ORPHA:2388 OMIM:200150 OMIM:619291 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 OMIM:619738 ORPHA:572798 ORPHA:329284 OMIM:300894 OMIM:604317 OMIM:259050 OMIM:618659 OMIM:616083

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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