Human Phenotype Ontology 
Grandparent Node:
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Abnormal emotion/affect behavior (HP:0100851)help
Parent Node:
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Abnormal aggressive, impulsive or violent behavior (HP:0006919)help
..Starting node
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Aggressive behavior (HP:0000718)help
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: 
..expandSelf-injurious behavior (HP:0100716) help
..expandViolent behavior (HP:0008760) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000718HP:0000718Aggressive behavior0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000718HP:0000718Aggressive behavior0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000718HP:0000718Aggressive behavior0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36HP:0040284 - Very rare9
HP:0000718HP:0000718Aggressive behavior0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000718HP:0000718Aggressive behavior0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000718HP:0000718Aggressive behavior0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000718HP:0000718Aggressive behavior0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000718HP:0000718Aggressive behavior0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000718HP:0000718Aggressive behavior0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0000718HP:0000718Aggressive behavior0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0000718HP:0000718Aggressive behavior0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000718HP:0000718Aggressive behavior0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0000718HP:0000718Aggressive behavior0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0000718HP:0000718Aggressive behavior0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0000718HP:0000718Aggressive behavior0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000718HP:0000718Aggressive behavior0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000718HP:0000718Aggressive behavior0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000718HP:0000718Aggressive behavior0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000718HP:0000718Aggressive behavior0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0000718HP:0000718Aggressive behavior0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000718HP:0000718Aggressive behavior0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000718HP:0000718Aggressive behavior0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000718HP:0000718Aggressive behavior0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000718HP:0000718Aggressive behavior0ARPC4 CL E G H10093707OMIM:620141
HP:0000718HP:0000718Aggressive behavior0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0000718HP:0000718Aggressive behavior0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0000718HP:0000718Aggressive behavior0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000718HP:0000718Aggressive behavior0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000718HP:0000718Aggressive behavior0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0000718HP:0000718Aggressive behavior0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0000718HP:0000718Aggressive behavior0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0000718HP:0000718Aggressive behavior0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000718HP:0000718Aggressive behavior0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0000718HP:0000718Aggressive behavior0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000718HP:0000718Aggressive behavior0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000718HP:0000718Aggressive behavior0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000718HP:0000718Aggressive behavior0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000718HP:0000718Aggressive behavior0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000718HP:0000718Aggressive behavior0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0000718HP:0000718Aggressive behavior0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare146
HP:0000718HP:0000718Aggressive behavior0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000718HP:0000718Aggressive behavior0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000718HP:0000718Aggressive behavior0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000718HP:0000718Aggressive behavior0CDC42BPB CL E G H95781738OMIM:619841
HP:0000718HP:0000718Aggressive behavior0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive.146
HP:0000718HP:0000718Aggressive behavior0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000718HP:0000718Aggressive behavior0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0000718HP:0000718Aggressive behavior0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0000718HP:0000718Aggressive behavior0CHD5 CL E G H2603816816OMIM:619873
HP:0000718HP:0000718Aggressive behavior0CHKA CL E G H11191937OMIM:620023
HP:0000718HP:0000718Aggressive behavior0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000718HP:0000718Aggressive behavior0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0000718HP:0000718Aggressive behavior0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare
HP:0000718HP:0000718Aggressive behavior0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare44
HP:0000718HP:0000718Aggressive behavior0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0000718HP:0000718Aggressive behavior0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000718HP:0000718Aggressive behavior0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000718HP:0000718Aggressive behavior0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0000718HP:0000718Aggressive behavior0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000718HP:0000718Aggressive behavior0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000718HP:0000718Aggressive behavior0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0000718HP:0000718Aggressive behavior0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000718HP:0000718Aggressive behavior0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0000718HP:0000718Aggressive behavior0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000718HP:0000718Aggressive behavior0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000718HP:0000718Aggressive behavior0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0000718HP:0000718Aggressive behavior0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0000718HP:0000718Aggressive behavior0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000718HP:0000718Aggressive behavior0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000718HP:0000718Aggressive behavior0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000718HP:0000718Aggressive behavior0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0000718HP:0000718Aggressive behavior0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0000718HP:0000718Aggressive behavior0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0000718HP:0000718Aggressive behavior0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0000718HP:0000718Aggressive behavior0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0000718HP:0000718Aggressive behavior0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0000718HP:0000718Aggressive behavior0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0000718HP:0000718Aggressive behavior0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000718HP:0000718Aggressive behavior0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0000718HP:0000718Aggressive behavior0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0000718HP:0000718Aggressive behavior0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0000718HP:0000718Aggressive behavior0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000718HP:0000718Aggressive behavior0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000718HP:0000718Aggressive behavior0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0000718HP:0000718Aggressive behavior0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000718HP:0000718Aggressive behavior0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000718HP:0000718Aggressive behavior0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000718HP:0000718Aggressive behavior0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040283 - Occasional51
HP:0000718HP:0000718Aggressive behavior0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease.14
HP:0000718HP:0000718Aggressive behavior0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0000718HP:0000718Aggressive behavior0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0000718HP:0000718Aggressive behavior0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare153
HP:0000718HP:0000718Aggressive behavior0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndromeHP:0040282 - Frequent223
HP:0000718HP:0000718Aggressive behavior0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000718HP:0000718Aggressive behavior0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0000718HP:0000718Aggressive behavior0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0000718HP:0000718Aggressive behavior0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive.3
HP:0000718HP:0000718Aggressive behavior0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000718HP:0000718Aggressive behavior0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0000718HP:0000718Aggressive behavior0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000718HP:0000718Aggressive behavior0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000718HP:0000718Aggressive behavior0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0000718HP:0000718Aggressive behavior0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0000718HP:0000718Aggressive behavior0FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital.111
HP:0000718HP:0000718Aggressive behavior0FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuriaHP:0040283 - Occasional55
HP:0000718HP:0000718Aggressive behavior0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000718HP:0000718Aggressive behavior0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000718HP:0000718Aggressive behavior0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000718HP:0000718Aggressive behavior0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0000718HP:0000718Aggressive behavior0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000718HP:0000718Aggressive behavior0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare134
HP:0000718HP:0000718Aggressive behavior0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0000718HP:0000718Aggressive behavior0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare10
HP:0000718HP:0000718Aggressive behavior0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0000718HP:0000718Aggressive behavior0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0000718HP:0000718Aggressive behavior0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0000718HP:0000718Aggressive behavior0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0000718HP:0000718Aggressive behavior0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000718HP:0000718Aggressive behavior0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000718HP:0000718Aggressive behavior0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 94.30
HP:0000718HP:0000718Aggressive behavior0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000718HP:0000718Aggressive behavior0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000718HP:0000718Aggressive behavior0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0000718HP:0000718Aggressive behavior0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0000718HP:0000718Aggressive behavior0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000718HP:0000718Aggressive behavior0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000718HP:0000718Aggressive behavior0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0000718HP:0000718Aggressive behavior0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000718HP:0000718Aggressive behavior0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000718HP:0000718Aggressive behavior0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000718HP:0000718Aggressive behavior0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000718HP:0000718Aggressive behavior0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0000718HP:0000718Aggressive behavior0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000718HP:0000718Aggressive behavior0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0000718HP:0000718Aggressive behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000718HP:0000718Aggressive behavior0IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 59.1
HP:0000718HP:0000718Aggressive behavior0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000718HP:0000718Aggressive behavior0INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0000718HP:0000718Aggressive behavior0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000718HP:0000718Aggressive behavior0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0000718HP:0000718Aggressive behavior0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare
HP:0000718HP:0000718Aggressive behavior0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040284 - Very rare302
HP:0000718HP:0000718Aggressive behavior0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5HP:0040283 - Occasional321
HP:0000718HP:0000718Aggressive behavior0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000718HP:0000718Aggressive behavior0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000718HP:0000718Aggressive behavior0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0000718HP:0000718Aggressive behavior0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000718HP:0000718Aggressive behavior0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040282 - Frequent81
HP:0000718HP:0000718Aggressive behavior0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0000718HP:0000718Aggressive behavior0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000718HP:0000718Aggressive behavior0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000718HP:0000718Aggressive behavior0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0000718HP:0000718Aggressive behavior0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000718HP:0000718Aggressive behavior0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive.112
HP:0000718HP:0000718Aggressive behavior0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiencyHP:0040280 - ObligateHP:0003593 - Infantile onset46
HP:0000718HP:0000718Aggressive behavior0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64.
HP:0000718HP:0000718Aggressive behavior0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27HP:0040283 - Occasional25
HP:0000718HP:0000718Aggressive behavior0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0000718HP:0000718Aggressive behavior0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000718HP:0000718Aggressive behavior0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000718HP:0000718Aggressive behavior0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0000718HP:0000718Aggressive behavior0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0000718HP:0000718Aggressive behavior0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000718HP:0000718Aggressive behavior0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0000718HP:0000718Aggressive behavior0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000718HP:0000718Aggressive behavior0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000718HP:0000718Aggressive behavior0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0000718HP:0000718Aggressive behavior0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000718HP:0000718Aggressive behavior0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000718HP:0000718Aggressive behavior0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000718HP:0000718Aggressive behavior0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000718HP:0000718Aggressive behavior0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000718HP:0000718Aggressive behavior0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000718HP:0000718Aggressive behavior0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 39.13
HP:0000718HP:0000718Aggressive behavior0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000718HP:0000718Aggressive behavior0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000718HP:0000718Aggressive behavior0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY.36
HP:0000718HP:0000718Aggressive behavior0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000718HP:0000718Aggressive behavior0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000718HP:0000718Aggressive behavior0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0000718HP:0000718Aggressive behavior0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0000718HP:0000718Aggressive behavior0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000718HP:0000718Aggressive behavior0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000718HP:0000718Aggressive behavior0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual developmentHP:0040284 - Very rare1
HP:0000718HP:0000718Aggressive behavior0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000718HP:0000718Aggressive behavior0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000718HP:0000718Aggressive behavior0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000718HP:0000718Aggressive behavior0NRCAM CL E G H48977994OMIM:6198332
HP:0000718HP:0000718Aggressive behavior0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0000718HP:0000718Aggressive behavior0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000718HP:0000718Aggressive behavior0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000718HP:0000718Aggressive behavior0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040282 - Frequent34
HP:0000718HP:0000718Aggressive behavior0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000718HP:0000718Aggressive behavior0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000718HP:0000718Aggressive behavior0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000718HP:0000718Aggressive behavior0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000718HP:0000718Aggressive behavior0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000718HP:0000718Aggressive behavior0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000718HP:0000718Aggressive behavior0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9.225
HP:0000718HP:0000718Aggressive behavior0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0000718HP:0000718Aggressive behavior0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000718HP:0000718Aggressive behavior0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000718HP:0000718Aggressive behavior0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000718HP:0000718Aggressive behavior0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 17.1
HP:0000718HP:0000718Aggressive behavior0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 6.2
HP:0000718HP:0000718Aggressive behavior0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0000718HP:0000718Aggressive behavior0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000718HP:0000718Aggressive behavior0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000718HP:0000718Aggressive behavior0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0000718HP:0000718Aggressive behavior0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0000718HP:0000718Aggressive behavior0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000718HP:0000718Aggressive behavior0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0000718HP:0000718Aggressive behavior0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0000718HP:0000718Aggressive behavior0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0000718HP:0000718Aggressive behavior0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional94
HP:0000718HP:0000718Aggressive behavior0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000718HP:0000718Aggressive behavior0PSMB1 CL E G H56899537OMIM:6200382
HP:0000718HP:0000718Aggressive behavior0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0000718HP:0000718Aggressive behavior0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0000718HP:0000718Aggressive behavior0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040283 - Occasional1
HP:0000718HP:0000718Aggressive behavior0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0000718HP:0000718Aggressive behavior0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000718HP:0000718Aggressive behavior0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0000718HP:0000718Aggressive behavior0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000718HP:0000718Aggressive behavior0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0000718HP:0000718Aggressive behavior0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000718HP:0000718Aggressive behavior0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0000718HP:0000718Aggressive behavior0SASS6 CL E G H16378625403OMIM:616402Microcephaly 14, primary, autosomal recessive.4
HP:0000718HP:0000718Aggressive behavior0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000718HP:0000718Aggressive behavior0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000718HP:0000718Aggressive behavior0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0000718HP:0000718Aggressive behavior0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0000718HP:0000718Aggressive behavior0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000718HP:0000718Aggressive behavior0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000718HP:0000718Aggressive behavior0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000718HP:0000718Aggressive behavior0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0000718HP:0000718Aggressive behavior0SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040282 - Frequent
HP:0000718HP:0000718Aggressive behavior0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000718HP:0000718Aggressive behavior0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000718HP:0000718Aggressive behavior0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000718HP:0000718Aggressive behavior0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000718HP:0000718Aggressive behavior0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0000718HP:0000718Aggressive behavior0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional255
HP:0000718HP:0000718Aggressive behavior0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0000718HP:0000718Aggressive behavior0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2HP:0040283 - Occasional47
HP:0000718HP:0000718Aggressive behavior0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000718HP:0000718Aggressive behavior0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000718HP:0000718Aggressive behavior0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000718HP:0000718Aggressive behavior0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0000718HP:0000718Aggressive behavior0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000718HP:0000718Aggressive behavior0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000718HP:0000718Aggressive behavior0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000718HP:0000718Aggressive behavior0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000718HP:0000718Aggressive behavior0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000718HP:0000718Aggressive behavior0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000718HP:0000718Aggressive behavior0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000718HP:0000718Aggressive behavior0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000718HP:0000718Aggressive behavior0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000718HP:0000718Aggressive behavior0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0000718HP:0000718Aggressive behavior0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0000718HP:0000718Aggressive behavior0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000718HP:0000718Aggressive behavior0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0000718HP:0000718Aggressive behavior0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000718HP:0000718Aggressive behavior0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000718HP:0000718Aggressive behavior0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000718HP:0000718Aggressive behavior0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0000718HP:0000718Aggressive behavior0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000718HP:0000718Aggressive behavior0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000718HP:0000718Aggressive behavior0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0000718HP:0000718Aggressive behavior0SYN1 CL E G H685311494OMIM:300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders.58
HP:0000718HP:0000718Aggressive behavior0SYN1 CL E G H685311494ORPHA:85294X-linked epilepsy-learning disabilities-behavior disorders syndromeHP:0040281 - Very frequent58
HP:0000718HP:0000718Aggressive behavior0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0000718HP:0000718Aggressive behavior0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0000718HP:0000718Aggressive behavior0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000718HP:0000718Aggressive behavior0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0000718HP:0000718Aggressive behavior0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000718HP:0000718Aggressive behavior0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0000718HP:0000718Aggressive behavior0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0000718HP:0000718Aggressive behavior0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000718HP:0000718Aggressive behavior0TMEM147 CL E G H1043030414OMIM:620075
HP:0000718HP:0000718Aggressive behavior0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000718HP:0000718Aggressive behavior0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0000718HP:0000718Aggressive behavior0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0000718HP:0000718Aggressive behavior0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000718HP:0000718Aggressive behavior0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0000718HP:0000718Aggressive behavior0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000718HP:0000718Aggressive behavior0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000718HP:0000718Aggressive behavior0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000718HP:0000718Aggressive behavior0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000718HP:0000718Aggressive behavior0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000718HP:0000718Aggressive behavior0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000718HP:0000718Aggressive behavior0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000718HP:0000718Aggressive behavior0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0000718HP:0000718Aggressive behavior0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000718HP:0000718Aggressive behavior0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0000718HP:0000718Aggressive behavior0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0000718HP:0000718Aggressive behavior0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0000718HP:0000718Aggressive behavior0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000718HP:0000718Aggressive behavior0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0000718HP:0000718Aggressive behavior0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000718HP:0000718Aggressive behavior0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0000718HP:0000718Aggressive behavior0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000718HP:0000718Aggressive behavior0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency.8
HP:0000718HP:0000718Aggressive behavior0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000718HP:0000718Aggressive behavior0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0000718HP:0000718Aggressive behavior0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0000718HP:0000718Aggressive behavior0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000718HP:0000718Aggressive behavior0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000718HP:0000718Aggressive behavior0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0000718HP:0000718Aggressive behavior0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0000718HP:0000718Aggressive behavior0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000718HP:0000718Aggressive behavior0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0000718HP:0000718Aggressive behavior0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000718HP:0000718Aggressive behavior0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0000718HP:0000718Aggressive behavior0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000718HP:0000718Aggressive behavior0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0000718HP:0000718Aggressive behavior0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040283 - Occasional51
HP:0000718HP:0000718Aggressive behavior0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5HP:0040283 - Occasional51
HP:0000718HP:0000718Aggressive behavior0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0000718HP:0000718Aggressive behavior0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000718HP:0000718Aggressive behavior0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000718HP:0000718Aggressive behavior0ZMYND11 CL E G H1077116966OMIM:616083Mental 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 ORPHA:251383 OMIM:300831 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 ORPHA:468678 OMIM:616364 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 ORPHA:2044 OMIM:136140 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.