Human Phenotype Ontology

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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0100851	HP:0100851	Abnormal emotion/affect 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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			94
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome			449
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy			146
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive			146
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome			227
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		227
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			188
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			225
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy			44
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			172
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome			72
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy			153
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome			57
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0100851	HP:0100851	Abnormal emotion/affect 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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy			302
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy			321
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5			321
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome			61
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		52
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9			225
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0100851	HP:0100851	Abnormal emotion/affect 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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome			1053
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		1053
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		255
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		29
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1			52
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome			58
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor			87
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders			58
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome			58
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional		108
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency			57
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0100851	HP:0100851	Abnormal emotion/affect 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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0100851	HP:0100851	Abnormal emotion/affect 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:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100851	HP:0100851	Abnormal emotion/affect behavior	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0100851	HP:0033838	Dysphoria	1	CL E G H
HP:0100851	HP:0033705	Tearfulness	1	CL E G H
HP:0100851	HP:0033625	Emotional insecurity	1	CL E G H
HP:0100851	HP:0031588	Unhappy demeanor	1	CL E G H
HP:0100851	HP:0041092	Emotional hypersensitivity	1	CL E G H
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0100851	HP:0000737	Irritability	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0100851	HP:0000737	Irritability	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0100851	HP:0000745	Diminished motivation	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0100851	HP:0000737	Irritability	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0100851	HP:0000737	Irritability	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		27
HP:0100851	HP:0000737	Irritability	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0100851	HP:0000737	Irritability	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0100851	HP:0040082	Happy demeanor	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	HP:0040283 - Occasional		118
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability			59
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100851	HP:0000737	Irritability	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0100851	HP:0000737	Irritability	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0100851	HP:0000712	Emotional lability	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0100851	HP:0000712	Emotional lability	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0100851	HP:0000745	Diminished motivation	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0100851	HP:0000737	Irritability	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0100851	HP:0000737	Irritability	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0100851	HP:0000737	Irritability	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0100851	HP:0000737	Irritability	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0100851	HP:0000712	Emotional lability	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome			176
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37			176
HP:0100851	HP:0000737	Irritability	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		6
HP:0100851	HP:0000712	Emotional lability	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0100851	HP:0000737	Irritability	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0100851	HP:0000737	Irritability	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.		75
HP:0100851	HP:0000737	Irritability	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.		31
HP:0100851	HP:0000737	Irritability	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0100851	HP:0000737	Irritability	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0100851	HP:0000712	Emotional lability	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100851	HP:0000712	Emotional lability	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0100851	HP:0000712	Emotional lability	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0100851	HP:0000712	Emotional lability	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0100851	HP:0000712	Emotional lability	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0100851	HP:0000737	Irritability	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0100851	HP:0000737	Irritability	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0100851	HP:0000737	Irritability	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0100851	HP:0000737	Irritability	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0100851	HP:0000737	Irritability	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0100851	HP:0040082	Happy demeanor	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0100851	HP:0040082	Happy demeanor	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0100851	HP:0000745	Diminished motivation	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2			4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0100851	HP:0000712	Emotional lability	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0100851	HP:0000712	Emotional lability	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0100851	HP:0000712	Emotional lability	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.		150
HP:0100851	HP:0000712	Emotional lability	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040283 - Occasional		150
HP:0100851	HP:0000737	Irritability	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0100851	HP:0000737	Irritability	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0100851	HP:0031589	Suicidal ideation	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0100851	HP:0000712	Emotional lability	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0100851	HP:0000745	Diminished motivation	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0100851	HP:0000745	Diminished motivation	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0100851	HP:0000712	Emotional lability	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0100851	HP:0000737	Irritability	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent		22
HP:0100851	HP:0000737	Irritability	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0100851	HP:0000737	Irritability	1	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.		67
HP:0100851	HP:0000712	Emotional lability	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0100851	HP:0000712	Emotional lability	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0100851	HP:0000712	Emotional lability	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0100851	HP:0000745	Diminished motivation	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0100851	HP:0000737	Irritability	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent		385
HP:0100851	HP:0000712	Emotional lability	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0100851	HP:0000712	Emotional lability	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0100851	HP:0031589	Suicidal ideation	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0100851	HP:0000712	Emotional lability	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0100851	HP:0000712	Emotional lability	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0100851	HP:0000737	Irritability	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0100851	HP:0000712	Emotional lability	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0100851	HP:0000745	Diminished motivation	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0100851	HP:0000745	Diminished motivation	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0100851	HP:0000737	Irritability	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0100851	HP:0030213	Emotional blunting	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0100851	HP:0000745	Diminished motivation	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0100851	HP:0000745	Diminished motivation	1	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia			56
HP:0100851	HP:0031589	Suicidal ideation	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		94
HP:0100851	HP:0000712	Emotional lability	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0100851	HP:0000745	Diminished motivation	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy			449
HP:0100851	HP:0000737	Irritability	1	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent		449
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome			449
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy			146
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100851	HP:0000737	Irritability	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0100851	HP:0000737	Irritability	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0100851	HP:0000712	Emotional lability	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		272
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0100851	HP:0000712	Emotional lability	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0000737	Irritability	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		105
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100851	HP:0000712	Emotional lability	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0100851	HP:0031589	Suicidal ideation	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0100851	HP:0000737	Irritability	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0100851	HP:0000737	Irritability	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0000745	Diminished motivation	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0100851	HP:0000745	Diminished motivation	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0100851	HP:0000737	Irritability	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0000737	Irritability	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0000745	Diminished motivation	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0100851	HP:0000745	Diminished motivation	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0100851	HP:0000737	Irritability	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive			146
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0100851	HP:0031589	Suicidal ideation	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0100851	HP:0000712	Emotional lability	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0000712	Emotional lability	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0100851	HP:0000745	Diminished motivation	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome			227
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100851	HP:0000712	Emotional lability	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0100851	HP:0000745	Diminished motivation	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0100851	HP:0030213	Emotional blunting	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0100851	HP:0000737	Irritability	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0100851	HP:0000745	Diminished motivation	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0100851	HP:0000745	Diminished motivation	1	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia			42
HP:0100851	HP:0031589	Suicidal ideation	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		188
HP:0100851	HP:0031589	Suicidal ideation	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		225
HP:0100851	HP:0031589	Suicidal ideation	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy			44
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0100851	HP:0000712	Emotional lability	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0100851	HP:0000712	Emotional lability	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0100851	HP:0000737	Irritability	1	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0100851	HP:0000737	Irritability	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040283 - Occasional		7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0100851	HP:0000712	Emotional lability	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0100851	HP:0000737	Irritability	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0100851	HP:0000744	Low frustration tolerance	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0100851	HP:0000737	Irritability	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0100851	HP:0000737	Irritability	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	.		67
HP:0100851	HP:0000737	Irritability	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		161
HP:0100851	HP:0000745	Diminished motivation	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0100851	HP:0000745	Diminished motivation	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0100851	HP:0000737	Irritability	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		35
HP:0100851	HP:0000712	Emotional lability	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0100851	HP:0000745	Diminished motivation	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0100851	HP:0000737	Irritability	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0100851	HP:0000737	Irritability	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		12
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0100851	HP:0000712	Emotional lability	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0100851	HP:0000712	Emotional lability	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0100851	HP:0031589	Suicidal ideation	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		1
HP:0100851	HP:0000737	Irritability	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0100851	HP:0000712	Emotional lability	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0100851	HP:0000712	Emotional lability	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0100851	HP:0031589	Suicidal ideation	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0100851	HP:0000737	Irritability	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional		41
HP:0100851	HP:0000737	Irritability	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0100851	HP:0000737	Irritability	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional		5
HP:0100851	HP:0000737	Irritability	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000712	Emotional lability	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0000737	Irritability	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100851	HP:0031589	Suicidal ideation	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0100851	HP:0000712	Emotional lability	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0100851	HP:0000745	Diminished motivation	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0100851	HP:0000745	Diminished motivation	1	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome			86
HP:0100851	HP:0031589	Suicidal ideation	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0100851	HP:0000737	Irritability	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0100851	HP:0000745	Diminished motivation	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0100851	HP:0000737	Irritability	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0100851	HP:0000712	Emotional lability	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome			57
HP:0100851	HP:0000712	Emotional lability	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder			33
HP:0100851	HP:0000712	Emotional lability	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome			33
HP:0100851	HP:0000712	Emotional lability	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0100851	HP:0031589	Suicidal ideation	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		172
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0000712	Emotional lability	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0000712	Emotional lability	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0000712	Emotional lability	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0000737	Irritability	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000745	Diminished motivation	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0100851	HP:0000737	Irritability	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000745	Diminished motivation	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0100851	HP:0000745	Diminished motivation	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0100851	HP:0000737	Irritability	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000745	Diminished motivation	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0100851	HP:0000737	Irritability	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000745	Diminished motivation	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0100851	HP:0000737	Irritability	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0000737	Irritability	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0000745	Diminished motivation	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0100851	HP:0000745	Diminished motivation	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0100851	HP:0000737	Irritability	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0000745	Diminished motivation	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0100851	HP:0000737	Irritability	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0100851	HP:0000744	Low frustration tolerance	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0100851	HP:0000745	Diminished motivation	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0100851	HP:0000745	Diminished motivation	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31			72
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome			72
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0100851	HP:0000737	Irritability	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0100851	HP:0000745	Diminished motivation	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0100851	HP:0030213	Emotional blunting	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome			144
HP:0100851	HP:0000737	Irritability	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0100851	HP:0040082	Happy demeanor	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0100851	HP:0000712	Emotional lability	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy			153
HP:0100851	HP:0000745	Diminished motivation	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0100851	HP:0000737	Irritability	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0100851	HP:0000745	Diminished motivation	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation			223
HP:0100851	HP:0000712	Emotional lability	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0100851	HP:0000712	Emotional lability	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0100851	HP:0000712	Emotional lability	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0100851	HP:0000712	Emotional lability	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0100851	HP:0000712	Emotional lability	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0100851	HP:0000744	Low frustration tolerance	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0100851	HP:0000745	Diminished motivation	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0100851	HP:0000712	Emotional lability	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0100851	HP:0000737	Irritability	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0100851	HP:0000737	Irritability	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0100851	HP:0000712	Emotional lability	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0100851	HP:0000737	Irritability	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent		170
HP:0100851	HP:0000737	Irritability	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		170
HP:0100851	HP:0000712	Emotional lability	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0100851	HP:0000712	Emotional lability	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0100851	HP:0000737	Irritability	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0100851	HP:0000712	Emotional lability	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0100851	HP:0000712	Emotional lability	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0100851	HP:0000737	Irritability	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0100851	HP:0000737	Irritability	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0100851	HP:0000737	Irritability	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		15
HP:0100851	HP:0000737	Irritability	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0100851	HP:0000737	Irritability	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0100851	HP:0000737	Irritability	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0100851	HP:0000737	Irritability	1	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100851	HP:0000737	Irritability	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0100851	HP:0000745	Diminished motivation	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0100851	HP:0000737	Irritability	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000745	Diminished motivation	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0100851	HP:0000737	Irritability	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000737	Irritability	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000745	Diminished motivation	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0100851	HP:0000745	Diminished motivation	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0100851	HP:0000737	Irritability	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000745	Diminished motivation	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0100851	HP:0000737	Irritability	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0100851	HP:0000737	Irritability	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0100851	HP:0000745	Diminished motivation	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0100851	HP:0000712	Emotional lability	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0100851	HP:0031589	Suicidal ideation	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital			111
HP:0100851	HP:0000737	Irritability	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria			55
HP:0100851	HP:0000712	Emotional lability	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040282 - Frequent		55
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0100851	HP:0000745	Diminished motivation	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0100851	HP:0000737	Irritability	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0100851	HP:0000737	Irritability	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0100851	HP:0000737	Irritability	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0100851	HP:0000737	Irritability	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000745	Diminished motivation	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0100851	HP:0000745	Diminished motivation	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0100851	HP:0000737	Irritability	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000737	Irritability	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000745	Diminished motivation	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0100851	HP:0000737	Irritability	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000745	Diminished motivation	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0100851	HP:0000712	Emotional lability	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0100851	HP:0000737	Irritability	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep			4
HP:0100851	HP:0000712	Emotional lability	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0100851	HP:0000712	Emotional lability	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent		33
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0100851	HP:0000712	Emotional lability	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0100851	HP:0000745	Diminished motivation	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0100851	HP:0000712	Emotional lability	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040284 - Very rare		3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy			134
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome			57
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy			10
HP:0100851	HP:0000712	Emotional lability	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		139
HP:0100851	HP:0000737	Irritability	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0100851	HP:0000712	Emotional lability	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0100851	HP:0000737	Irritability	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040284 - Very rare		160
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency			91
HP:0100851	HP:0000737	Irritability	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000745	Diminished motivation	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0100851	HP:0000737	Irritability	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000745	Diminished motivation	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0100851	HP:0000737	Irritability	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000737	Irritability	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000745	Diminished motivation	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0100851	HP:0000737	Irritability	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000745	Diminished motivation	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0100851	HP:0000744	Low frustration tolerance	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0100851	HP:0000745	Diminished motivation	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0100851	HP:0000744	Low frustration tolerance	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100851	HP:0000745	Diminished motivation	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0100851	HP:0000737	Irritability	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0100851	HP:0000737	Irritability	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0100851	HP:0000745	Diminished motivation	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0100851	HP:0000745	Diminished motivation	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0100851	HP:0000744	Low frustration tolerance	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0100851	HP:0000737	Irritability	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0100851	HP:0000712	Emotional lability	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0100851	HP:0000745	Diminished motivation	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0100851	HP:0000737	Irritability	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000737	Irritability	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000745	Diminished motivation	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0100851	HP:0000745	Diminished motivation	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0100851	HP:0000737	Irritability	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000745	Diminished motivation	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0100851	HP:0000737	Irritability	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000737	Irritability	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040283 - Occasional		17
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0100851	HP:0000712	Emotional lability	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0000745	Diminished motivation	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0100851	HP:0000712	Emotional lability	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		16
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0100851	HP:0000712	Emotional lability	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0100851	HP:0000712	Emotional lability	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0100851	HP:0000737	Irritability	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0100851	HP:0000737	Irritability	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0100851	HP:0000737	Irritability	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0100851	HP:0000744	Low frustration tolerance	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0100851	HP:0000737	Irritability	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.	HP:0003623 - Neonatal onset
HP:0100851	HP:0040082	Happy demeanor	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0100851	HP:0000712	Emotional lability	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep			434
HP:0100851	HP:0000712	Emotional lability	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome			434
HP:0100851	HP:0000712	Emotional lability	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		434
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0100851	HP:0000745	Diminished motivation	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0100851	HP:0030213	Emotional blunting	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0100851	HP:0000737	Irritability	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0100851	HP:0000745	Diminished motivation	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions			126
HP:0100851	HP:0000745	Diminished motivation	1	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia			126
HP:0100851	HP:0000737	Irritability	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent		100
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100851	HP:0000737	Irritability	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0100851	HP:0000737	Irritability	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0100851	HP:0040082	Happy demeanor	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0100851	HP:0000712	Emotional lability	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0100851	HP:0000745	Diminished motivation	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0100851	HP:0000737	Irritability	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040283 - Occasional		32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0100851	HP:0000737	Irritability	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0100851	HP:0000745	Diminished motivation	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0100851	HP:0000737	Irritability	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0100851	HP:0000712	Emotional lability	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0100851	HP:0000712	Emotional lability	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.		2
HP:0100851	HP:0000737	Irritability	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0100851	HP:0000737	Irritability	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent		148
HP:0100851	HP:0000745	Diminished motivation	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0100851	HP:0000745	Diminished motivation	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0100851	HP:0000712	Emotional lability	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0100851	HP:0100024	Conspicuously happy disposition	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0100851	HP:0000737	Irritability	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1			4
HP:0100851	HP:0000737	Irritability	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000712	Emotional lability	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000745	Diminished motivation	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000745	Diminished motivation	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0100851	HP:0031589	Suicidal ideation	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0100851	HP:0000745	Diminished motivation	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0100851	HP:0000737	Irritability	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0100851	HP:0000737	Irritability	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0100851	HP:0000737	Irritability	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0100851	HP:0000737	Irritability	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0100851	HP:0000737	Irritability	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	HP:0003623 - Neonatal onset	28
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0100851	HP:0000737	Irritability	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0100851	HP:0000737	Irritability	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0100851	HP:0000737	Irritability	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59			1
HP:0100851	HP:0000737	Irritability	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		135
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0100851	HP:0000737	Irritability	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0100851	HP:0000737	Irritability	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0100851	HP:0000745	Diminished motivation	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0100851	HP:0100024	Conspicuously happy disposition	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy			302
HP:0100851	HP:0031589	Suicidal ideation	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional		321
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5			321
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0100851	HP:0000744	Low frustration tolerance	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.		81
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0100851	HP:0000737	Irritability	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0100851	HP:0000744	Low frustration tolerance	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation			99
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive			112
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0100851	HP:0000737	Irritability	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		196
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0100851	HP:0000712	Emotional lability	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0100851	HP:0000712	Emotional lability	1	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0100851	HP:0000712	Emotional lability	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0100851	HP:0000712	Emotional lability	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent		46
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27			25
HP:0100851	HP:0000712	Emotional lability	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0100851	HP:0000745	Diminished motivation	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0100851	HP:0000744	Low frustration tolerance	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0100851	HP:0000745	Diminished motivation	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0100851	HP:0000737	Irritability	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000737	Irritability	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0100851	HP:0000737	Irritability	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		59
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0100851	HP:0000744	Low frustration tolerance	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome			61
HP:0100851	HP:0000712	Emotional lability	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0100851	HP:0000737	Irritability	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0100851	HP:0030213	Emotional blunting	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0100851	HP:0000737	Irritability	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0100851	HP:0000737	Irritability	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0100851	HP:0030213	Emotional blunting	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia			140
HP:0100851	HP:0000737	Irritability	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0100851	HP:0000745	Diminished motivation	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0100851	HP:0000712	Emotional lability	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0100851	HP:0000712	Emotional lability	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0100851	HP:0000737	Irritability	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent		950
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent		950
HP:0100851	HP:0000737	Irritability	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0100851	HP:0000712	Emotional lability	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0100851	HP:0000744	Low frustration tolerance	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0100851	HP:0000737	Irritability	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0100851	HP:0000737	Irritability	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0100851	HP:0000712	Emotional lability	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040283 - Occasional		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0000737	Irritability	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		1819
HP:0100851	HP:0000737	Irritability	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		131
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0000737	Irritability	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0100851	HP:0000737	Irritability	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		2162
HP:0100851	HP:0000737	Irritability	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		2232
HP:0100851	HP:0000712	Emotional lability	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0100851	HP:0000712	Emotional lability	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040283 - Occasional		19
HP:0100851	HP:0000712	Emotional lability	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	HP:0040283 - Occasional		19
HP:0100851	HP:0000737	Irritability	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0100851	HP:0000737	Irritability	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0100851	HP:0000737	Irritability	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100851	HP:0000737	Irritability	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0100851	HP:0000737	Irritability	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040281 - Very frequent		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0100851	HP:0000712	Emotional lability	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY			36
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0100851	HP:0100024	Conspicuously happy disposition	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0100851	HP:0000737	Irritability	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100851	HP:0000737	Irritability	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0100851	HP:0000737	Irritability	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0100851	HP:0000712	Emotional lability	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0100851	HP:0000712	Emotional lability	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0100851	HP:0000712	Emotional lability	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0100851	HP:0000712	Emotional lability	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0100851	HP:0000712	Emotional lability	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0100851	HP:0000737	Irritability	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0100851	HP:0000712	Emotional lability	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0100851	HP:0000712	Emotional lability	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0100851	HP:0000737	Irritability	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0100851	HP:0000712	Emotional lability	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0100851	HP:0000712	Emotional lability	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0100851	HP:0000712	Emotional lability	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0100851	HP:0000737	Irritability	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0100851	HP:0000712	Emotional lability	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0100851	HP:0000712	Emotional lability	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0100851	HP:0000712	Emotional lability	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0100851	HP:0000712	Emotional lability	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0100851	HP:0000712	Emotional lability	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0100851	HP:0000712	Emotional lability	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0100851	HP:0000712	Emotional lability	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0100851	HP:0000712	Emotional lability	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0100851	HP:0000712	Emotional lability	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100851	HP:0000712	Emotional lability	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0100851	HP:0000737	Irritability	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0100851	HP:0000712	Emotional lability	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0100851	HP:0000737	Irritability	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0100851	HP:0000737	Irritability	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000745	Diminished motivation	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0100851	HP:0000745	Diminished motivation	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0100851	HP:0000737	Irritability	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000737	Irritability	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000745	Diminished motivation	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0100851	HP:0000745	Diminished motivation	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0100851	HP:0000737	Irritability	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0100851	HP:0000745	Diminished motivation	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0100851	HP:0000712	Emotional lability	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent		144
HP:0100851	HP:0000745	Diminished motivation	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0100851	HP:0000737	Irritability	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		241
HP:0100851	HP:0000737	Irritability	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		69
HP:0100851	HP:0000712	Emotional lability	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0100851	HP:0031589	Suicidal ideation	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0100851	HP:0000737	Irritability	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0100851	HP:0000737	Irritability	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0100851	HP:0000737	Irritability	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0100851	HP:0000712	Emotional lability	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	HP:0040282 - Frequent		97
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0100851	HP:0000737	Irritability	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0100851	HP:0000737	Irritability	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000737	Irritability	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000737	Irritability	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000737	Irritability	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0100851	HP:0040082	Happy demeanor	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0100851	HP:0000744	Low frustration tolerance	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0100851	HP:0000712	Emotional lability	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0100851	HP:0000737	Irritability	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0100851	HP:0000737	Irritability	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0100851	HP:0000745	Diminished motivation	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0100851	HP:0000737	Irritability	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0100851	HP:0000712	Emotional lability	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0100851	HP:0000745	Diminished motivation	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0100851	HP:0000737	Irritability	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		39
HP:0100851	HP:0000737	Irritability	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040283 - Occasional		24
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9			225
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability			225
HP:0100851	HP:0000712	Emotional lability	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.		1
HP:0100851	HP:0000712	Emotional lability	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0100851	HP:0000712	Emotional lability	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0100851	HP:0000712	Emotional lability	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0100851	HP:0000712	Emotional lability	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0100851	HP:0000745	Diminished motivation	1	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5			9
HP:0100851	HP:0000712	Emotional lability	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0100851	HP:0000712	Emotional lability	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0000737	Irritability	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0100851	HP:0000712	Emotional lability	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0100851	HP:0000712	Emotional lability	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0100851	HP:0000712	Emotional lability	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.		21
HP:0100851	HP:0000737	Irritability	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0100851	HP:0000737	Irritability	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		162
HP:0100851	HP:0000712	Emotional lability	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0100851	HP:0000745	Diminished motivation	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0100851	HP:0000712	Emotional lability	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0100851	HP:0000712	Emotional lability	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0100851	HP:0000737	Irritability	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		118
HP:0100851	HP:0000745	Diminished motivation	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0100851	HP:0000737	Irritability	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0100851	HP:0000745	Diminished motivation	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0100851	HP:0000737	Irritability	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0100851	HP:0000737	Irritability	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0100851	HP:0000737	Irritability	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		56
HP:0100851	HP:0000737	Irritability	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		1121
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0100851	HP:0000745	Diminished motivation	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0100851	HP:0000737	Irritability	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0100851	HP:0000712	Emotional lability	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0100851	HP:0000712	Emotional lability	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0100851	HP:0000712	Emotional lability	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0100851	HP:0000712	Emotional lability	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0100851	HP:0000712	Emotional lability	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0100851	HP:0000712	Emotional lability	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0100851	HP:0000744	Low frustration tolerance	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0100851	HP:0000737	Irritability	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0100851	HP:0000737	Irritability	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.		58
HP:0100851	HP:0000712	Emotional lability	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0100851	HP:0000712	Emotional lability	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0100851	HP:0000737	Irritability	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0100851	HP:0000712	Emotional lability	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0100851	HP:0000712	Emotional lability	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0100851	HP:0040082	Happy demeanor	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0100851	HP:0000745	Diminished motivation	1	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0000745	Diminished motivation	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0100851	HP:0000737	Irritability	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0100851	HP:0000745	Diminished motivation	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0100851	HP:0000712	Emotional lability	1	PRNP CL E G H	5621	9449	ORPHA:280397	Familial Alzheimer-like prion disease	HP:0040281 - Very frequent		69
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0100851	HP:0000712	Emotional lability	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1			69
HP:0100851	HP:0000712	Emotional lability	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0100851	HP:0000737	Irritability	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0100851	HP:0000745	Diminished motivation	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I			13
HP:0100851	HP:0000712	Emotional lability	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0100851	HP:0000737	Irritability	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		94
HP:0100851	HP:0000737	Irritability	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0100851	HP:0000712	Emotional lability	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0100851	HP:0000712	Emotional lability	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0100851	HP:0000712	Emotional lability	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0100851	HP:0000745	Diminished motivation	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0100851	HP:0030213	Emotional blunting	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0100851	HP:0000737	Irritability	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0100851	HP:0000745	Diminished motivation	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0100851	HP:0000737	Irritability	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0100851	HP:0000737	Irritability	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0100851	HP:0030213	Emotional blunting	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0100851	HP:0000745	Diminished motivation	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0100851	HP:0000745	Diminished motivation	1	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia			241
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0100851	HP:0000712	Emotional lability	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0100851	HP:0000737	Irritability	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000745	Diminished motivation	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0100851	HP:0000737	Irritability	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000745	Diminished motivation	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0100851	HP:0000737	Irritability	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000745	Diminished motivation	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0100851	HP:0000737	Irritability	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000745	Diminished motivation	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4			34
HP:0100851	HP:0000737	Irritability	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated			16
HP:0100851	HP:0000737	Irritability	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		2
HP:0100851	HP:0000737	Irritability	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0100851	HP:0000744	Low frustration tolerance	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0000737	Irritability	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0100851	HP:0000737	Irritability	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0100851	HP:0000737	Irritability	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0100851	HP:0040082	Happy demeanor	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0100851	HP:0000737	Irritability	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0100851	HP:0000737	Irritability	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0100851	HP:0000737	Irritability	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0100851	HP:0000737	Irritability	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0100851	HP:0000737	Irritability	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0100851	HP:0000712	Emotional lability	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0100851	HP:0000737	Irritability	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100851	HP:0000737	Irritability	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15			3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0100851	HP:0000737	Irritability	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0100851	HP:0000737	Irritability	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0100851	HP:0000737	Irritability	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0100851	HP:0000712	Emotional lability	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive			4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0100851	HP:0100024	Conspicuously happy disposition	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0100851	HP:0040082	Happy demeanor	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0100851	HP:0000712	Emotional lability	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0100851	HP:0040082	Happy demeanor	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome			1053
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0100851	HP:0000737	Irritability	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0100851	HP:0000712	Emotional lability	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0100851	HP:0000737	Irritability	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0100851	HP:0000737	Irritability	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2			16
HP:0100851	HP:0000737	Irritability	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0100851	HP:0000737	Irritability	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0100851	HP:0000737	Irritability	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0100851	HP:0000737	Irritability	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040282 - Frequent		48
HP:0100851	HP:0000737	Irritability	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0100851	HP:0000737	Irritability	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000745	Diminished motivation	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0100851	HP:0000737	Irritability	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000745	Diminished motivation	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0100851	HP:0000745	Diminished motivation	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0100851	HP:0000737	Irritability	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000745	Diminished motivation	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0100851	HP:0000737	Irritability	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0100851	HP:0100024	Conspicuously happy disposition	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0100851	HP:0000745	Diminished motivation	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0100851	HP:0000737	Irritability	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0100851	HP:0000737	Irritability	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0100851	HP:0000712	Emotional lability	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0100851	HP:0000737	Irritability	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0100851	HP:0000737	Irritability	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0100851	HP:0000712	Emotional lability	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0100851	HP:0000737	Irritability	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0100851	HP:0000737	Irritability	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0100851	HP:0000737	Irritability	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0100851	HP:0000737	Irritability	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0100851	HP:0000737	Irritability	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0100851	HP:0000737	Irritability	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0100851	HP:0000737	Irritability	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0100851	HP:0000737	Irritability	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0100851	HP:0000737	Irritability	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	HP:0040283 - Occasional		255
HP:0100851	HP:0000737	Irritability	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		255
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0100851	HP:0000737	Irritability	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0100851	HP:0031589	Suicidal ideation	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0100851	HP:0000745	Diminished motivation	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0100851	HP:0000737	Irritability	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0100851	HP:0000712	Emotional lability	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0100851	HP:0000712	Emotional lability	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0100851	HP:0000737	Irritability	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0100851	HP:0000737	Irritability	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0100851	HP:0000712	Emotional lability	1	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:0100851	HP:0000712	Emotional lability	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent		12
HP:0100851	HP:0000712	Emotional lability	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.		12
HP:0100851	HP:0000737	Irritability	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1			52
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0100851	HP:0100024	Conspicuously happy disposition	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0100851	HP:0040082	Happy demeanor	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome			58
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0100851	HP:0000744	Low frustration tolerance	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0100851	HP:0000745	Diminished motivation	1	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor			87
HP:0100851	HP:0000737	Irritability	1	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040281 - Very frequent		87
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0100851	HP:0000712	Emotional lability	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0100851	HP:0000712	Emotional lability	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0100851	HP:0000745	Diminished motivation	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0100851	HP:0000737	Irritability	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100851	HP:0000712	Emotional lability	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0100851	HP:0000737	Irritability	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0100851	HP:0000745	Diminished motivation	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0100851	HP:0000744	Low frustration tolerance	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0100851	HP:0000745	Diminished motivation	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0000712	Emotional lability	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts			6
HP:0100851	HP:0040082	Happy demeanor	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0100851	HP:0040082	Happy demeanor	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0100851	HP:0000712	Emotional lability	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0100851	HP:0000712	Emotional lability	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0100851	HP:0000712	Emotional lability	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0100851	HP:0000745	Diminished motivation	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0100851	HP:0000712	Emotional lability	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0100851	HP:0000745	Diminished motivation	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0100851	HP:0000712	Emotional lability	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0031589	Suicidal ideation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0000737	Irritability	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0000712	Emotional lability	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0100851	HP:0000737	Irritability	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0100851	HP:0000745	Diminished motivation	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0100851	HP:0030213	Emotional blunting	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0100851	HP:0000745	Diminished motivation	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0100851	HP:0000745	Diminished motivation	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0100851	HP:0000712	Emotional lability	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040283 - Occasional		50
HP:0100851	HP:0000737	Irritability	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.		41
HP:0100851	HP:0000737	Irritability	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0100851	HP:0000737	Irritability	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000745	Diminished motivation	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000745	Diminished motivation	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0100851	HP:0000745	Diminished motivation	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0100851	HP:0000737	Irritability	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000737	Irritability	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000745	Diminished motivation	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0100851	HP:0000745	Diminished motivation	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0100851	HP:0000737	Irritability	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000745	Diminished motivation	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0100851	HP:0000737	Irritability	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0100851	HP:0000737	Irritability	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0100851	HP:0000737	Irritability	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0100851	HP:0000737	Irritability	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0100851	HP:0000712	Emotional lability	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0100851	HP:0000712	Emotional lability	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders			58
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome			58
HP:0100851	HP:0000745	Diminished motivation	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0100851	HP:0000712	Emotional lability	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0100851	HP:0000712	Emotional lability	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100851	HP:0000712	Emotional lability	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0100851	HP:0000745	Diminished motivation	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0100851	HP:0000712	Emotional lability	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0100851	HP:0000745	Diminished motivation	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0100851	HP:0040082	Happy demeanor	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0100851	HP:0040082	Happy demeanor	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0100851	HP:0000737	Irritability	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000712	Emotional lability	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0100851	HP:0000745	Diminished motivation	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0100851	HP:0000745	Diminished motivation	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0100851	HP:0000712	Emotional lability	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0100851	HP:0040082	Happy demeanor	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0100851	HP:0000737	Irritability	1	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0100851	HP:0000745	Diminished motivation	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000745	Diminished motivation	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000745	Diminished motivation	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000745	Diminished motivation	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0100851	HP:0000737	Irritability	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000737	Irritability	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0100851	HP:0000712	Emotional lability	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100851	HP:0000737	Irritability	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040282 - Frequent		253
HP:0100851	HP:0000737	Irritability	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0100851	HP:0000745	Diminished motivation	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000737	Irritability	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000745	Diminished motivation	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0100851	HP:0000737	Irritability	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0100851	HP:0000737	Irritability	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0100851	HP:0000737	Irritability	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0100851	HP:0030213	Emotional blunting	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0100851	HP:0000737	Irritability	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100851	HP:0000745	Diminished motivation	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100851	HP:0000745	Diminished motivation	1	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0100851	HP:0000737	Irritability	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0100851	HP:0000745	Diminished motivation	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0100851	HP:0031589	Suicidal ideation	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100851	HP:0000712	Emotional lability	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54			2
HP:0100851	HP:0000737	Irritability	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0100851	HP:0000712	Emotional lability	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0100851	HP:0031589	Suicidal ideation	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0100851	HP:0000712	Emotional lability	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0100851	HP:0000712	Emotional lability	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0100851	HP:0030213	Emotional blunting	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0100851	HP:0000737	Irritability	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0100851	HP:0000745	Diminished motivation	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0100851	HP:0000737	Irritability	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0100851	HP:0000745	Diminished motivation	1	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia			31
HP:0100851	HP:0000737	Irritability	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0100851	HP:0000737	Irritability	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0100851	HP:0000745	Diminished motivation	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0100851	HP:0000737	Irritability	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0100851	HP:0000737	Irritability	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0100851	HP:0000737	Irritability	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		107
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0100851	HP:0000737	Irritability	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0100851	HP:0000737	Irritability	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0100851	HP:0000737	Irritability	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0100851	HP:0000712	Emotional lability	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0100851	HP:0000712	Emotional lability	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0100851	HP:0000737	Irritability	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0100851	HP:0031844	Euphoria	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0100851	HP:0000737	Irritability	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0100851	HP:0000737	Irritability	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0100851	HP:0040082	Happy demeanor	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0100851	HP:0040082	Happy demeanor	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0100851	HP:0040082	Happy demeanor	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0100851	HP:0000712	Emotional lability	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0100851	HP:0000745	Diminished motivation	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0100851	HP:0000712	Emotional lability	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0100851	HP:0100024	Conspicuously happy disposition	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0100851	HP:0000712	Emotional lability	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0100851	HP:0031589	Suicidal ideation	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0100851	HP:0000712	Emotional lability	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0100851	HP:0031589	Suicidal ideation	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0100851	HP:0000712	Emotional lability	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0100851	HP:0000712	Emotional lability	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0100851	HP:0000712	Emotional lability	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0100851	HP:0000712	Emotional lability	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0100851	HP:0000745	Diminished motivation	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0100851	HP:0030213	Emotional blunting	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0100851	HP:0000737	Irritability	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0100851	HP:0000745	Diminished motivation	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0100851	HP:0000737	Irritability	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0100851	HP:0000712	Emotional lability	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0100851	HP:0000712	Emotional lability	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000737	Irritability	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000745	Diminished motivation	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0100851	HP:0000745	Diminished motivation	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0100851	HP:0000745	Diminished motivation	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0100851	HP:0000744	Low frustration tolerance	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0100851	HP:0000737	Irritability	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0100851	HP:0000737	Irritability	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0100851	HP:0040082	Happy demeanor	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration			51
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5			51
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0100851	HP:0000737	Irritability	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		177
HP:0100851	HP:0000737	Irritability	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0100851	HP:0040082	Happy demeanor	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0100851	HP:0040082	Happy demeanor	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent		362
HP:0100851	HP:0040082	Happy demeanor	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent		362
HP:0100851	HP:0000712	Emotional lability	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0100851	HP:0000737	Irritability	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000745	Diminished motivation	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0100851	HP:0000737	Irritability	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000745	Diminished motivation	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0100851	HP:0000745	Diminished motivation	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0100851	HP:0000737	Irritability	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000737	Irritability	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000745	Diminished motivation	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0100851	HP:0006919	Abnormal aggressive, impulsive or violent behavior	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0100851	HP:0000737	Irritability	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0100851	HP:0040082	Happy demeanor	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0100851	HP:0100716	Self-injurious behavior	2	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000718	Aggressive behavior	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0100851	HP:0000741	Apathy	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0100851	HP:0000718	Aggressive behavior	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0100851	HP:0000718	Aggressive behavior	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	HP:0040284 - Very rare		9
HP:0100851	HP:0000718	Aggressive behavior	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0100851	HP:0000718	Aggressive behavior	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0100851	HP:0100716	Self-injurious behavior	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0100851	HP:0000718	Aggressive behavior	2	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent		59
HP:0100851	HP:0000718	Aggressive behavior	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0100851	HP:0000718	Aggressive behavior	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100851	HP:0000741	Apathy	2	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0100851	HP:0000718	Aggressive behavior	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0100851	HP:0100716	Self-injurious behavior	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0100851	HP:0000718	Aggressive behavior	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0100851	HP:0100716	Self-injurious behavior	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0100851	HP:0100716	Self-injurious behavior	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0100851	HP:0000718	Aggressive behavior	2	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF			12
HP:0100851	HP:0000718	Aggressive behavior	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0100851	HP:0000718	Aggressive behavior	2	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040282 - Frequent		176
HP:0100851	HP:0000718	Aggressive behavior	2	ANK3 CL E G H	288	494	OMIM:615493	Mental retardation, autosomal recessive 37	.		176
HP:0100851	HP:0100716	Self-injurious behavior	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100851	HP:0000718	Aggressive behavior	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100851	HP:0000718	Aggressive behavior	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100851	HP:0000718	Aggressive behavior	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent		13
HP:0100851	HP:0100716	Self-injurious behavior	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0000718	Aggressive behavior	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000718	Aggressive behavior	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0100851	HP:0000718	Aggressive behavior	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0100851	HP:0000718	Aggressive behavior	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0100851	HP:0000718	Aggressive behavior	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0100851	HP:0000718	Aggressive behavior	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0100851	HP:0100716	Self-injurious behavior	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0100851	HP:0100716	Self-injurious behavior	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0100851	HP:0100716	Self-injurious behavior	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0100851	HP:0000718	Aggressive behavior	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.		100
HP:0100851	HP:0000741	Apathy	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0100851	HP:0000718	Aggressive behavior	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0100851	HP:0100716	Self-injurious behavior	2	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2			4
HP:0100851	HP:0000718	Aggressive behavior	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0100851	HP:0000718	Aggressive behavior	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0100851	HP:0100716	Self-injurious behavior	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0100851	HP:0000718	Aggressive behavior	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0100851	HP:0100716	Self-injurious behavior	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0100851	HP:0030216	Inertia	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0100851	HP:0000718	Aggressive behavior	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0100851	HP:0000741	Apathy	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0100851	HP:0100716	Self-injurious behavior	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0100851	HP:0000718	Aggressive behavior	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional		8
HP:0100851	HP:0100716	Self-injurious behavior	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0100851	HP:0100716	Self-injurious behavior	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0100851	HP:0000718	Aggressive behavior	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0100851	HP:0000718	Aggressive behavior	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0100851	HP:0000741	Apathy	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare
HP:0100851	HP:0000718	Aggressive behavior	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0100851	HP:0000718	Aggressive behavior	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0100851	HP:0000718	Aggressive behavior	2	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66			2
HP:0100851	HP:0000741	Apathy	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0100851	HP:0000741	Apathy	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		56
HP:0100851	HP:0012671	Abulia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		56
HP:0100851	HP:0000718	Aggressive behavior	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0100851	HP:0000741	Apathy	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0100851	HP:0012671	Abulia	2	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		56
HP:0100851	HP:0000718	Aggressive behavior	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0100851	HP:0000741	Apathy	2	CACNA1A CL E G H	773	1388	ORPHA:71518	Benign paroxysmal torticollis of infancy	HP:0040282 - Frequent		449
HP:0100851	HP:0000718	Aggressive behavior	2	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0100851	HP:0000718	Aggressive behavior	2	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		146
HP:0100851	HP:0000718	Aggressive behavior	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100851	HP:0100716	Self-injurious behavior	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0100851	HP:0000718	Aggressive behavior	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0100851	HP:0000718	Aggressive behavior	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0100851	HP:0100716	Self-injurious behavior	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		118
HP:0100851	HP:0100716	Self-injurious behavior	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0100851	HP:0100716	Self-injurious behavior	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100851	HP:0000718	Aggressive behavior	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0100851	HP:0100716	Self-injurious behavior	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100851	HP:0100716	Self-injurious behavior	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		405
HP:0100851	HP:0000741	Apathy	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0000741	Apathy	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0100851	HP:0000741	Apathy	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0000741	Apathy	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0100851	HP:0100716	Self-injurious behavior	2	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0100851	HP:0000718	Aggressive behavior	2	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.		146
HP:0100851	HP:0100716	Self-injurious behavior	2	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive			146
HP:0100851	HP:0000718	Aggressive behavior	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0100851	HP:0000718	Aggressive behavior	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0100851	HP:0000741	Apathy	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0100851	HP:0000718	Aggressive behavior	2	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0100851	HP:0000718	Aggressive behavior	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0100851	HP:0100716	Self-injurious behavior	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0100851	HP:0100716	Self-injurious behavior	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0100851	HP:0000718	Aggressive behavior	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100851	HP:0100716	Self-injurious behavior	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100851	HP:0000718	Aggressive behavior	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0100851	HP:0012671	Abulia	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		42
HP:0100851	HP:0000741	Apathy	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		42
HP:0100851	HP:0000718	Aggressive behavior	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0100851	HP:0000741	Apathy	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0100851	HP:0012671	Abulia	2	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		42
HP:0100851	HP:0000718	Aggressive behavior	2	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare
HP:0100851	HP:0000718	Aggressive behavior	2	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		44
HP:0100851	HP:0100716	Self-injurious behavior	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0100851	HP:0100716	Self-injurious behavior	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0100851	HP:0000718	Aggressive behavior	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0100851	HP:0000718	Aggressive behavior	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.		45
HP:0100851	HP:0000718	Aggressive behavior	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0100851	HP:0000718	Aggressive behavior	2	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0100851	HP:0100716	Self-injurious behavior	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0100851	HP:0100716	Self-injurious behavior	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0000718	Aggressive behavior	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0000718	Aggressive behavior	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0100851	HP:0000741	Apathy	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040283 - Occasional		54
HP:0100851	HP:0000741	Apathy	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent		54
HP:0100851	HP:0000741	Apathy	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0100851	HP:0100716	Self-injurious behavior	2	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2			19
HP:0100851	HP:0100716	Self-injurious behavior	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0100851	HP:0000718	Aggressive behavior	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0100851	HP:0100716	Self-injurious behavior	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0100851	HP:0000718	Aggressive behavior	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0100851	HP:0100716	Self-injurious behavior	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0100851	HP:0100716	Self-injurious behavior	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0100851	HP:0000718	Aggressive behavior	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0100851	HP:0100716	Self-injurious behavior	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0100851	HP:0000718	Aggressive behavior	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0100851	HP:0000718	Aggressive behavior	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0100851	HP:0000718	Aggressive behavior	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent		38
HP:0100851	HP:0000718	Aggressive behavior	2	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0100851	HP:0000718	Aggressive behavior	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0100851	HP:0100716	Self-injurious behavior	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0100851	HP:0000741	Apathy	2	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent		86
HP:0100851	HP:0000741	Apathy	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0100851	HP:0012672	Akinetic mutism	2	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040282 - Frequent		145
HP:0100851	HP:0000718	Aggressive behavior	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0100851	HP:0000718	Aggressive behavior	2	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent		57
HP:0100851	HP:0000718	Aggressive behavior	2	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.		33
HP:0100851	HP:0000718	Aggressive behavior	2	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent		33
HP:0100851	HP:0000718	Aggressive behavior	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0100851	HP:0100716	Self-injurious behavior	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0100851	HP:0000718	Aggressive behavior	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0100851	HP:0000718	Aggressive behavior	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0100851	HP:0000718	Aggressive behavior	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0100851	HP:0100716	Self-injurious behavior	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0100716	Self-injurious behavior	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0100851	HP:0000718	Aggressive behavior	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0000741	Apathy	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000741	Apathy	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0100851	HP:0000741	Apathy	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000741	Apathy	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0100851	HP:0000741	Apathy	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0000741	Apathy	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0100851	HP:0000741	Apathy	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0000741	Apathy	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0100851	HP:0100716	Self-injurious behavior	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0100851	HP:0000741	Apathy	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0100851	HP:0000741	Apathy	2	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		6
HP:0100851	HP:0100716	Self-injurious behavior	2	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	HP:0040283 - Occasional		72
HP:0100851	HP:0000718	Aggressive behavior	2	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0100851	HP:0100716	Self-injurious behavior	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0100851	HP:0000741	Apathy	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0100851	HP:0000718	Aggressive behavior	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare		44
HP:0100851	HP:0000718	Aggressive behavior	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0100851	HP:0100716	Self-injurious behavior	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0100851	HP:0000718	Aggressive behavior	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0100851	HP:0000718	Aggressive behavior	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0100851	HP:0100716	Self-injurious behavior	2	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0100851	HP:0000718	Aggressive behavior	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100851	HP:0000718	Aggressive behavior	2	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0000718	Aggressive behavior	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040283 - Occasional		51
HP:0100851	HP:0000718	Aggressive behavior	2	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.		14
HP:0100851	HP:0000718	Aggressive behavior	2	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0100851	HP:0000718	Aggressive behavior	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0100851	HP:0100716	Self-injurious behavior	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0100851	HP:0000718	Aggressive behavior	2	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		153
HP:0100851	HP:0000741	Apathy	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0100851	HP:0000718	Aggressive behavior	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	HP:0040282 - Frequent		223
HP:0100851	HP:0000741	Apathy	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0100851	HP:0100716	Self-injurious behavior	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0100851	HP:0000718	Aggressive behavior	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0100851	HP:0000741	Apathy	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		2
HP:0100851	HP:0100716	Self-injurious behavior	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0100851	HP:0000718	Aggressive behavior	2	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58	.		6
HP:0100851	HP:0000718	Aggressive behavior	2	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0100851	HP:0000718	Aggressive behavior	2	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive	.		3
HP:0100851	HP:0100716	Self-injurious behavior	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0100851	HP:0100716	Self-injurious behavior	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0100851	HP:0000718	Aggressive behavior	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0100851	HP:0000718	Aggressive behavior	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0100851	HP:0100716	Self-injurious behavior	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0100851	HP:0000718	Aggressive behavior	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0100851	HP:0000718	Aggressive behavior	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100851	HP:0100716	Self-injurious behavior	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100851	HP:0000718	Aggressive behavior	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent		47
HP:0100851	HP:0000741	Apathy	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000741	Apathy	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0100851	HP:0000741	Apathy	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000741	Apathy	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0100851	HP:0000741	Apathy	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0100851	HP:0000741	Apathy	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0100851	HP:0000718	Aggressive behavior	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0100851	HP:0000718	Aggressive behavior	2	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.		111
HP:0100851	HP:0100716	Self-injurious behavior	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0100851	HP:0000718	Aggressive behavior	2	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional		55
HP:0100851	HP:0100716	Self-injurious behavior	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0100851	HP:0100716	Self-injurious behavior	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional		30
HP:0100851	HP:0030216	Inertia	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent		30
HP:0100851	HP:0100716	Self-injurious behavior	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0100851	HP:0000718	Aggressive behavior	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0100851	HP:0000741	Apathy	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000741	Apathy	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0100851	HP:0000741	Apathy	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0000741	Apathy	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0100851	HP:0100716	Self-injurious behavior	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0100851	HP:0000718	Aggressive behavior	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0100851	HP:0000718	Aggressive behavior	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0100851	HP:0000718	Aggressive behavior	2	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		4
HP:0100851	HP:0000718	Aggressive behavior	2	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9			13
HP:0100851	HP:0000741	Apathy	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0100851	HP:0100716	Self-injurious behavior	2	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0100851	HP:0000718	Aggressive behavior	2	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		134
HP:0100851	HP:0000718	Aggressive behavior	2	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0100851	HP:0100716	Self-injurious behavior	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0100851	HP:0000718	Aggressive behavior	2	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		10
HP:0100851	HP:0000718	Aggressive behavior	2	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0100851	HP:0000718	Aggressive behavior	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional		91
HP:0100851	HP:0100716	Self-injurious behavior	2	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional		91
HP:0100851	HP:0000741	Apathy	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000741	Apathy	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0100851	HP:0000741	Apathy	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0000741	Apathy	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0100851	HP:0100716	Self-injurious behavior	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0100851	HP:0000741	Apathy	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0100851	HP:0000741	Apathy	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0100851	HP:0000741	Apathy	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0100851	HP:0000741	Apathy	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0100851	HP:0100716	Self-injurious behavior	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0100851	HP:0100716	Self-injurious behavior	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0100851	HP:0100716	Self-injurious behavior	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0100851	HP:0000718	Aggressive behavior	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0100851	HP:0000741	Apathy	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000741	Apathy	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0100851	HP:0000741	Apathy	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0000741	Apathy	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0100851	HP:0100716	Self-injurious behavior	2	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0100851	HP:0000741	Apathy	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0100851	HP:0100716	Self-injurious behavior	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		36
HP:0100851	HP:0100716	Self-injurious behavior	2	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0100851	HP:0000718	Aggressive behavior	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0100851	HP:0000718	Aggressive behavior	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0100851	HP:0000718	Aggressive behavior	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94	.		30
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0100851	HP:0000718	Aggressive behavior	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0100851	HP:0000718	Aggressive behavior	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0100851	HP:0100716	Self-injurious behavior	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0100851	HP:0000718	Aggressive behavior	2	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional		434
HP:0100851	HP:0000718	Aggressive behavior	2	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0100851	HP:0100716	Self-injurious behavior	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0100851	HP:0100716	Self-injurious behavior	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0100851	HP:0000741	Apathy	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		126
HP:0100851	HP:0012671	Abulia	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		126
HP:0100851	HP:0000718	Aggressive behavior	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0100851	HP:0000741	Apathy	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.		126
HP:0100851	HP:0012671	Abulia	2	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		126
HP:0100851	HP:0100716	Self-injurious behavior	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100851	HP:0000718	Aggressive behavior	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0100851	HP:0100716	Self-injurious behavior	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0100851	HP:0100716	Self-injurious behavior	2	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome			1
HP:0100851	HP:0000718	Aggressive behavior	2	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.		1
HP:0100851	HP:0100716	Self-injurious behavior	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0100851	HP:0000718	Aggressive behavior	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100851	HP:0000718	Aggressive behavior	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0100851	HP:0100716	Self-injurious behavior	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0100851	HP:0100716	Self-injurious behavior	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0100851	HP:0000741	Apathy	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare		38
HP:0100851	HP:0000718	Aggressive behavior	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0100851	HP:0000741	Apathy	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0100851	HP:0000741	Apathy	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0100851	HP:0000741	Apathy	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0100851	HP:0100716	Self-injurious behavior	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0100851	HP:0000718	Aggressive behavior	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0100851	HP:0100716	Self-injurious behavior	2	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0100851	HP:0000718	Aggressive behavior	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0100851	HP:0100716	Self-injurious behavior	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0100851	HP:0100716	Self-injurious behavior	2	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1			4
HP:0100851	HP:0012671	Abulia	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0012672	Akinetic mutism	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000741	Apathy	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000718	Aggressive behavior	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0100851	HP:0000741	Apathy	2	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		39
HP:0100851	HP:0000718	Aggressive behavior	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0100851	HP:0000741	Apathy	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0100851	HP:0100716	Self-injurious behavior	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0100851	HP:0000718	Aggressive behavior	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0100851	HP:0000718	Aggressive behavior	2	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.		1
HP:0100851	HP:0000718	Aggressive behavior	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0100851	HP:0100716	Self-injurious behavior	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0100851	HP:0000718	Aggressive behavior	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0100851	HP:0100716	Self-injurious behavior	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0000718	Aggressive behavior	2	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0100851	HP:0000718	Aggressive behavior	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0100851	HP:0100716	Self-injurious behavior	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0100851	HP:0100716	Self-injurious behavior	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0100851	HP:0000741	Apathy	2	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0100851	HP:0000718	Aggressive behavior	2	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare
HP:0100851	HP:0100716	Self-injurious behavior	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0100851	HP:0100716	Self-injurious behavior	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0100851	HP:0100716	Self-injurious behavior	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		145
HP:0100851	HP:0100716	Self-injurious behavior	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0100851	HP:0000718	Aggressive behavior	2	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040284 - Very rare		302
HP:0100851	HP:0000718	Aggressive behavior	2	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5	HP:0040283 - Occasional		321
HP:0100851	HP:0000718	Aggressive behavior	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0100851	HP:0000718	Aggressive behavior	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100851	HP:0000718	Aggressive behavior	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0100851	HP:0000718	Aggressive behavior	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0100851	HP:0000718	Aggressive behavior	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040282 - Frequent		81
HP:0100851	HP:0000718	Aggressive behavior	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional		46
HP:0100851	HP:0100716	Self-injurious behavior	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0100851	HP:0100716	Self-injurious behavior	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0100851	HP:0000718	Aggressive behavior	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0100851	HP:0000718	Aggressive behavior	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0100851	HP:0100716	Self-injurious behavior	2	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2			99
HP:0100851	HP:0100716	Self-injurious behavior	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0100851	HP:0000718	Aggressive behavior	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0100851	HP:0100716	Self-injurious behavior	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0100851	HP:0000718	Aggressive behavior	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0100851	HP:0000718	Aggressive behavior	2	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0100851	HP:0100716	Self-injurious behavior	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0100851	HP:0100716	Self-injurious behavior	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0100851	HP:0100716	Self-injurious behavior	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0100851	HP:0000718	Aggressive behavior	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0100851	HP:0000718	Aggressive behavior	2	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0100851	HP:0000718	Aggressive behavior	2	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	HP:0040283 - Occasional		25
HP:0100851	HP:0000718	Aggressive behavior	2	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52			1
HP:0100851	HP:0000741	Apathy	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0100851	HP:0000741	Apathy	2	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		221
HP:0100851	HP:0100716	Self-injurious behavior	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0100851	HP:0100716	Self-injurious behavior	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0100851	HP:0100716	Self-injurious behavior	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0100851	HP:0100716	Self-injurious behavior	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0100851	HP:0000718	Aggressive behavior	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0100851	HP:0000718	Aggressive behavior	2	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0100851	HP:0000718	Aggressive behavior	2	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0100851	HP:0100716	Self-injurious behavior	2	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome			22
HP:0100851	HP:0100716	Self-injurious behavior	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0100851	HP:0000718	Aggressive behavior	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0100851	HP:0000718	Aggressive behavior	2	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		140
HP:0100851	HP:0000718	Aggressive behavior	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0100851	HP:0012671	Abulia	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		140
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040283 - Occasional		140
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040282 - Frequent		140
HP:0100851	HP:0012671	Abulia	2	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		140
HP:0100851	HP:0000741	Apathy	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0100851	HP:0100716	Self-injurious behavior	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0100851	HP:0000718	Aggressive behavior	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0100851	HP:0100716	Self-injurious behavior	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0100851	HP:0000718	Aggressive behavior	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent		950
HP:0100851	HP:0000718	Aggressive behavior	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0100851	HP:0000718	Aggressive behavior	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100851	HP:0000718	Aggressive behavior	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0100851	HP:0000718	Aggressive behavior	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0100851	HP:0000718	Aggressive behavior	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0100851	HP:0100716	Self-injurious behavior	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0100851	HP:0000718	Aggressive behavior	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0100851	HP:0100716	Self-injurious behavior	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0100851	HP:0100716	Self-injurious behavior	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100716	Self-injurious behavior	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0100851	HP:0100716	Self-injurious behavior	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100851	HP:0000718	Aggressive behavior	2	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39	.		13
HP:0100851	HP:0100716	Self-injurious behavior	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0100851	HP:0100716	Self-injurious behavior	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0100851	HP:0000718	Aggressive behavior	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0100851	HP:0000718	Aggressive behavior	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0100851	HP:0000718	Aggressive behavior	2	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	.		36
HP:0100851	HP:0100716	Self-injurious behavior	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0100851	HP:0100716	Self-injurious behavior	2	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY			1
HP:0100851	HP:0000718	Aggressive behavior	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100851	HP:0000718	Aggressive behavior	2	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0100851	HP:0100716	Self-injurious behavior	2	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0100851	HP:0100716	Self-injurious behavior	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0100851	HP:0100716	Self-injurious behavior	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0100851	HP:0100716	Self-injurious behavior	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0100851	HP:0100716	Self-injurious behavior	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0100851	HP:0000718	Aggressive behavior	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0100851	HP:0100716	Self-injurious behavior	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0100851	HP:0000718	Aggressive behavior	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46	.		27
HP:0100851	HP:0100716	Self-injurious behavior	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100851	HP:0100716	Self-injurious behavior	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100851	HP:0000718	Aggressive behavior	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0100851	HP:0000718	Aggressive behavior	2	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	HP:0040284 - Very rare		1
HP:0100851	HP:0100716	Self-injurious behavior	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0100851	HP:0100716	Self-injurious behavior	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		117
HP:0100851	HP:0100716	Self-injurious behavior	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0100716	Self-injurious behavior	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0100851	HP:0000718	Aggressive behavior	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0100851	HP:0000741	Apathy	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000741	Apathy	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0100851	HP:0000741	Apathy	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000741	Apathy	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0100851	HP:0000718	Aggressive behavior	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0100851	HP:0000718	Aggressive behavior	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0100851	HP:0012671	Abulia	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0100851	HP:0000741	Apathy	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent		144
HP:0100851	HP:0100716	Self-injurious behavior	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0100851	HP:0000718	Aggressive behavior	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0100851	HP:0100716	Self-injurious behavior	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0100851	HP:0000718	Aggressive behavior	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0100851	HP:0000718	Aggressive behavior	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0100851	HP:0000718	Aggressive behavior	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0100851	HP:0000718	Aggressive behavior	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0100851	HP:0000718	Aggressive behavior	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040282 - Frequent		34
HP:0100851	HP:0100716	Self-injurious behavior	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100851	HP:0100716	Self-injurious behavior	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0100851	HP:0100716	Self-injurious behavior	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0100851	HP:0100716	Self-injurious behavior	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0100851	HP:0100716	Self-injurious behavior	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0100851	HP:0100716	Self-injurious behavior	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0100851	HP:0000718	Aggressive behavior	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0100851	HP:0100716	Self-injurious behavior	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0100851	HP:0000718	Aggressive behavior	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0100716	Self-injurious behavior	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0100716	Self-injurious behavior	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0100851	HP:0000718	Aggressive behavior	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0100851	HP:0100716	Self-injurious behavior	2	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional		641
HP:0100851	HP:0000718	Aggressive behavior	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0100851	HP:0030216	Inertia	2	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional		55
HP:0100851	HP:0008760	Violent behavior	2	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0100851	HP:0000741	Apathy	2	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		23
HP:0100851	HP:0000718	Aggressive behavior	2	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.		225
HP:0100851	HP:0000718	Aggressive behavior	2	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0100851	HP:0000718	Aggressive behavior	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0100851	HP:0000741	Apathy	2	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.		9
HP:0100851	HP:0100716	Self-injurious behavior	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0100851	HP:0100716	Self-injurious behavior	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851	HP:0000718	Aggressive behavior	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851	HP:0100716	Self-injurious behavior	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100851	HP:0000718	Aggressive behavior	2	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	.		1
HP:0100851	HP:0008760	Violent behavior	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0100851	HP:0100716	Self-injurious behavior	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0100851	HP:0100716	Self-injurious behavior	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0100851	HP:0000718	Aggressive behavior	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0100851	HP:0000741	Apathy	2	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		55
HP:0100851	HP:0000718	Aggressive behavior	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0100851	HP:0000741	Apathy	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0100851	HP:0000741	Apathy	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0100851	HP:0100716	Self-injurious behavior	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		244
HP:0100851	HP:0000741	Apathy	2	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		6
HP:0100851	HP:0000718	Aggressive behavior	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0100851	HP:0100716	Self-injurious behavior	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0100851	HP:0000718	Aggressive behavior	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0100851	HP:0100716	Self-injurious behavior	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0100851	HP:0000718	Aggressive behavior	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040282 - Frequent		10
HP:0100851	HP:0100716	Self-injurious behavior	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0100851	HP:0000718	Aggressive behavior	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0100851	HP:0000741	Apathy	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent		2
HP:0100851	HP:0030216	Inertia	2	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent		2
HP:0100851	HP:0100716	Self-injurious behavior	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000741	Apathy	2	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		138
HP:0100851	HP:0000741	Apathy	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0100851	HP:0000718	Aggressive behavior	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0100851	HP:0000718	Aggressive behavior	2	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.		69
HP:0100851	HP:0000741	Apathy	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0100851	HP:0012672	Akinetic mutism	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0100851	HP:0000718	Aggressive behavior	2	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I	.		13
HP:0100851	HP:0000718	Aggressive behavior	2	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		94
HP:0100851	HP:0012671	Abulia	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		241
HP:0100851	HP:0000741	Apathy	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		241
HP:0100851	HP:0000718	Aggressive behavior	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0100851	HP:0000741	Apathy	2	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0100851	HP:0000741	Apathy	2	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0100851	HP:0012671	Abulia	2	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		241
HP:0100851	HP:0000718	Aggressive behavior	2	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0100851	HP:0000718	Aggressive behavior	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		4
HP:0100851	HP:0000741	Apathy	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000741	Apathy	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0100851	HP:0000741	Apathy	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000741	Apathy	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0100851	HP:0000718	Aggressive behavior	2	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.		34
HP:0100851	HP:0000718	Aggressive behavior	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000718	Aggressive behavior	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0100851	HP:0100716	Self-injurious behavior	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100716	Self-injurious behavior	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0000718	Aggressive behavior	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0100851	HP:0100716	Self-injurious behavior	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0100851	HP:0100716	Self-injurious behavior	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0100851	HP:0000718	Aggressive behavior	2	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.		68
HP:0100851	HP:0100716	Self-injurious behavior	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100851	HP:0100716	Self-injurious behavior	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0100851	HP:0100716	Self-injurious behavior	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0100851	HP:0000718	Aggressive behavior	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0100851	HP:0100716	Self-injurious behavior	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0100851	HP:0100716	Self-injurious behavior	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100851	HP:0000718	Aggressive behavior	2	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0100851	HP:0100716	Self-injurious behavior	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0100851	HP:0100716	Self-injurious behavior	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0100851	HP:0100716	Self-injurious behavior	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0100851	HP:0000718	Aggressive behavior	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0100851	HP:0000718	Aggressive behavior	2	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0100851	HP:0000718	Aggressive behavior	2	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0100851	HP:0000718	Aggressive behavior	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0100851	HP:0000718	Aggressive behavior	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0100851	HP:0000718	Aggressive behavior	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0100851	HP:0100716	Self-injurious behavior	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0100851	HP:0000718	Aggressive behavior	2	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0100851	HP:0100716	Self-injurious behavior	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		126
HP:0100851	HP:0100716	Self-injurious behavior	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		427
HP:0100851	HP:0100716	Self-injurious behavior	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0100851	HP:0000718	Aggressive behavior	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0100851	HP:0000718	Aggressive behavior	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0100851	HP:0000718	Aggressive behavior	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0100851	HP:0000718	Aggressive behavior	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0100851	HP:0000718	Aggressive behavior	2	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040282 - Frequent
HP:0100851	HP:0100716	Self-injurious behavior	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0100851	HP:0000718	Aggressive behavior	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0100851	HP:0000741	Apathy	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000741	Apathy	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0100851	HP:0000741	Apathy	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000741	Apathy	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0100851	HP:0000718	Aggressive behavior	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0100851	HP:0100716	Self-injurious behavior	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0100851	HP:0100716	Self-injurious behavior	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		11
HP:0100851	HP:0100716	Self-injurious behavior	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0100851	HP:0000718	Aggressive behavior	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0100851	HP:0000741	Apathy	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000741	Apathy	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0100851	HP:0000741	Apathy	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000741	Apathy	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0100716	Self-injurious behavior	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0100851	HP:0000718	Aggressive behavior	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0100851	HP:0100716	Self-injurious behavior	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0100851	HP:0000718	Aggressive behavior	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0100851	HP:0100716	Self-injurious behavior	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0100851	HP:0000718	Aggressive behavior	2	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040283 - Occasional		255
HP:0100851	HP:0000718	Aggressive behavior	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0100851	HP:0000741	Apathy	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0100851	HP:0000718	Aggressive behavior	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0100851	HP:0100716	Self-injurious behavior	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0100851	HP:0000718	Aggressive behavior	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0100716	Self-injurious behavior	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0100851	HP:0100716	Self-injurious behavior	2	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1			52
HP:0100851	HP:0000718	Aggressive behavior	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0100851	HP:0100716	Self-injurious behavior	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency			122
HP:0100851	HP:0100716	Self-injurious behavior	2	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome			58
HP:0100851	HP:0000718	Aggressive behavior	2	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.		58
HP:0100851	HP:0100716	Self-injurious behavior	2	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA			58
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0100851	HP:0000741	Apathy	2	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040281 - Very frequent		87
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0100716	Self-injurious behavior	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0100851	HP:0000741	Apathy	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0100851	HP:0100716	Self-injurious behavior	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100851	HP:0000741	Apathy	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0100851	HP:0000741	Apathy	2	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		65
HP:0100851	HP:0100716	Self-injurious behavior	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100716	Self-injurious behavior	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100851	HP:0100716	Self-injurious behavior	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0100851	HP:0100716	Self-injurious behavior	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0100851	HP:0100716	Self-injurious behavior	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0100851	HP:0100716	Self-injurious behavior	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0100851	HP:0000718	Aggressive behavior	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0100851	HP:0000718	Aggressive behavior	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0100851	HP:0100716	Self-injurious behavior	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0100851	HP:0000741	Apathy	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0100851	HP:0000718	Aggressive behavior	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0100851	HP:0100716	Self-injurious behavior	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0100851	HP:0100716	Self-injurious behavior	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0100851	HP:0000718	Aggressive behavior	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0100851	HP:0012672	Akinetic mutism	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0100851	HP:0100716	Self-injurious behavior	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0100851	HP:0000718	Aggressive behavior	2	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0100851	HP:0000718	Aggressive behavior	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0008760	Violent behavior	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100851	HP:0000741	Apathy	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		62
HP:0100851	HP:0000718	Aggressive behavior	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0100851	HP:0012671	Abulia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		62
HP:0100851	HP:0000741	Apathy	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0100851	HP:0000741	Apathy	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0100851	HP:0000718	Aggressive behavior	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0100851	HP:0000718	Aggressive behavior	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0100851	HP:0000741	Apathy	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000741	Apathy	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000718	Aggressive behavior	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0100851	HP:0000741	Apathy	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000741	Apathy	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0100851	HP:0000741	Apathy	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000741	Apathy	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0100851	HP:0000718	Aggressive behavior	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0100851	HP:0000718	Aggressive behavior	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0100851	HP:0100716	Self-injurious behavior	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100851	HP:0000718	Aggressive behavior	2	SYN1 CL E G H	6853	11494	OMIM:300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	.		58
HP:0100851	HP:0000718	Aggressive behavior	2	SYN1 CL E G H	6853	11494	ORPHA:85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0040281 - Very frequent		58
HP:0100851	HP:0000741	Apathy	2	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		9
HP:0100851	HP:0100716	Self-injurious behavior	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0100851	HP:0100716	Self-injurious behavior	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0100851	HP:0100716	Self-injurious behavior	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100851	HP:0000741	Apathy	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0100851	HP:0000741	Apathy	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0100851	HP:0000741	Apathy	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0100851	HP:0000741	Apathy	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0100851	HP:0000718	Aggressive behavior	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0100851	HP:0000718	Aggressive behavior	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0100851	HP:0000718	Aggressive behavior	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0100851	HP:0100716	Self-injurious behavior	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0100851	HP:0100716	Self-injurious behavior	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0100851	HP:0000718	Aggressive behavior	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0100851	HP:0000741	Apathy	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000741	Apathy	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0100851	HP:0000741	Apathy	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000741	Apathy	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0100851	HP:0000718	Aggressive behavior	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100851	HP:0000741	Apathy	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000741	Apathy	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0100851	HP:0000741	Apathy	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0000741	Apathy	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0100851	HP:0100716	Self-injurious behavior	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0100851	HP:0000718	Aggressive behavior	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0100851	HP:0000718	Aggressive behavior	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0100851	HP:0100716	Self-injurious behavior	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0100851	HP:0100716	Self-injurious behavior	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0100851	HP:0100716	Self-injurious behavior	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0100851	HP:0000741	Apathy	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0100851	HP:0012671	Abulia	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0100851	HP:0012671	Abulia	2	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100851	HP:0100716	Self-injurious behavior	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0100851	HP:0100716	Self-injurious behavior	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent		33
HP:0100851	HP:0000741	Apathy	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0100851	HP:0000718	Aggressive behavior	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0100851	HP:0000718	Aggressive behavior	2	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0100851	HP:0000741	Apathy	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		31
HP:0100851	HP:0012671	Abulia	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		31
HP:0100851	HP:0000718	Aggressive behavior	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0100851	HP:0012671	Abulia	2	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent		31
HP:0100851	HP:0100716	Self-injurious behavior	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0100851	HP:0000741	Apathy	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0100851	HP:0100716	Self-injurious behavior	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0100851	HP:0000718	Aggressive behavior	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0100851	HP:0000718	Aggressive behavior	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0100851	HP:0100716	Self-injurious behavior	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0100851	HP:0100716	Self-injurious behavior	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0100851	HP:0000718	Aggressive behavior	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0100851	HP:0000718	Aggressive behavior	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0100851	HP:0100716	Self-injurious behavior	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0100851	HP:0000718	Aggressive behavior	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0100851	HP:0000718	Aggressive behavior	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0100851	HP:0100716	Self-injurious behavior	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0100851	HP:0000718	Aggressive behavior	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0100851	HP:0000718	Aggressive behavior	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0100851	HP:0000718	Aggressive behavior	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0100851	HP:0000718	Aggressive behavior	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0100851	HP:0100716	Self-injurious behavior	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		14
HP:0100851	HP:0000718	Aggressive behavior	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0100851	HP:0000718	Aggressive behavior	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0100851	HP:0100716	Self-injurious behavior	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0100851	HP:0000718	Aggressive behavior	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0100851	HP:0000718	Aggressive behavior	2	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0100851	HP:0100716	Self-injurious behavior	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0000741	Apathy	2	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		21
HP:0100851	HP:0100716	Self-injurious behavior	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0100851	HP:0000718	Aggressive behavior	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0100851	HP:0000718	Aggressive behavior	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	.		8
HP:0100851	HP:0100716	Self-injurious behavior	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0100851	HP:0000718	Aggressive behavior	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0100851	HP:0000718	Aggressive behavior	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0100851	HP:0000718	Aggressive behavior	2	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99			27
HP:0100851	HP:0100716	Self-injurious behavior	2	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0100851	HP:0000741	Apathy	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		63
HP:0100851	HP:0012671	Abulia	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		63
HP:0100851	HP:0000718	Aggressive behavior	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0100851	HP:0000741	Apathy	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0100851	HP:0000718	Aggressive behavior	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0100716	Self-injurious behavior	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0100851	HP:0100716	Self-injurious behavior	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000718	Aggressive behavior	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0100851	HP:0000741	Apathy	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000741	Apathy	2	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent		8
HP:0100851	HP:0000718	Aggressive behavior	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0100851	HP:0000741	Apathy	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional		37
HP:0100851	HP:0000718	Aggressive behavior	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0100716	Self-injurious behavior	2	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:0100851	HP:0000718	Aggressive behavior	2	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:0100851	HP:0000718	Aggressive behavior	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0100851	HP:0000718	Aggressive behavior	2	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0100851	HP:0000718	Aggressive behavior	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0100851	HP:0100716	Self-injurious behavior	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100851	HP:0100716	Self-injurious behavior	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0100851	HP:0000718	Aggressive behavior	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040283 - Occasional		51
HP:0100851	HP:0000718	Aggressive behavior	2	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	HP:0040283 - Occasional		51
HP:0100851	HP:0000718	Aggressive behavior	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0100851	HP:0100716	Self-injurious behavior	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0100851	HP:0000718	Aggressive behavior	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0100851	HP:0100716	Self-injurious behavior	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0100851	HP:0000741	Apathy	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000741	Apathy	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0100851	HP:0000741	Apathy	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000741	Apathy	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0100851	HP:0000718	Aggressive behavior	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0100851	HP:0000718	Aggressive behavior	2	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30	.		24
HP:0100851	HP:0000742	Self-mutilation	3	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0100851	HP:0000742	Self-mutilation	3	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0100851	HP:0000742	Self-mutilation	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0100851	HP:0012169	Self-biting	3	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.		4
HP:0100851	HP:0000742	Self-mutilation	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0100851	HP:0000742	Self-mutilation	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0100851	HP:0000742	Self-mutilation	3	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0100851	HP:0012169	Self-biting	3	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0100851	HP:0012166	Skin-picking	3	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0100851	HP:0000742	Self-mutilation	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0100851	HP:0000742	Self-mutilation	3	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent		6
HP:0100851	HP:0012166	Skin-picking	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0000742	Self-mutilation	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0100851	HP:0000742	Self-mutilation	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0100851	HP:0000742	Self-mutilation	3	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0100851	HP:0000742	Self-mutilation	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0100851	HP:0012169	Self-biting	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0100851	HP:0012168	Head-banging	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0100851	HP:0000742	Self-mutilation	3	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional		144
HP:0100851	HP:0012167	Hair-pulling	3	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0100851	HP:0000742	Self-mutilation	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0100851	HP:0012169	Self-biting	3	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0100851	HP:0000742	Self-mutilation	3	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0100851	HP:0000742	Self-mutilation	3	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0100851	HP:0000742	Self-mutilation	3	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0100851	HP:0000742	Self-mutilation	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100851	HP:0000742	Self-mutilation	3	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.		1
HP:0100851	HP:0000742	Self-mutilation	3	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0100851	HP:0012166	Skin-picking	3	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1			4
HP:0100851	HP:0000742	Self-mutilation	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0100851	HP:0012168	Head-banging	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0100851	HP:0012166	Skin-picking	3	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0100851	HP:0000742	Self-mutilation	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0100851	HP:0000742	Self-mutilation	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0100851	HP:0000742	Self-mutilation	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0100851	HP:0012166	Skin-picking	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0100851	HP:0012166	Skin-picking	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0100851	HP:0012166	Skin-picking	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0100851	HP:0012166	Skin-picking	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0100851	HP:0012166	Skin-picking	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0100851	HP:0012168	Head-banging	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0100851	HP:0000742	Self-mutilation	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0100851	HP:0000742	Self-mutilation	3	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0100851	HP:0000742	Self-mutilation	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0100851	HP:0000742	Self-mutilation	3	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0100851	HP:0000742	Self-mutilation	3	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0100851	HP:0012166	Skin-picking	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0100851	HP:0012166	Skin-picking	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0100851	HP:0012166	Skin-picking	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0100851	HP:0012169	Self-biting	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0100851	HP:0000742	Self-mutilation	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent		97
HP:0100851	HP:0012169	Self-biting	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0100851	HP:0000742	Self-mutilation	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0100851	HP:0012166	Skin-picking	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0100851	HP:0012166	Skin-picking	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0100851	HP:0012166	Skin-picking	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0100851	HP:0000742	Self-mutilation	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0100851	HP:0012169	Self-biting	3	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851	HP:0012168	Head-banging	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100851	HP:0000742	Self-mutilation	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0100851	HP:0012168	Head-banging	3	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.		150
HP:0100851	HP:0000742	Self-mutilation	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100851	HP:0000742	Self-mutilation	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0100851	HP:0012167	Hair-pulling	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0100851	HP:0012166	Skin-picking	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0100851	HP:0012167	Hair-pulling	3	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0100851	HP:0000742	Self-mutilation	3	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0100851	HP:0000742	Self-mutilation	3	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:0100851	HP:0012166	Skin-picking	3	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1			52
HP:0100851	HP:0000742	Self-mutilation	3	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent		122
HP:0100851	HP:0000742	Self-mutilation	3	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.		58
HP:0100851	HP:0012167	Hair-pulling	3	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.		58
HP:0100851	HP:0000742	Self-mutilation	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100851	HP:0012166	Skin-picking	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0100851	HP:0012166	Skin-picking	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0100851	HP:0012166	Skin-picking	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0100851	HP:0012168	Head-banging	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0100851	HP:0012166	Skin-picking	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0100851	HP:0012168	Head-banging	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100851	HP:0012169	Self-biting	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0000742	Self-mutilation	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0100851	HP:0012168	Head-banging	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100851	HP:0000742	Self-mutilation	3	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0100851	HP:0000742	Self-mutilation	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0100851	HP:0000742	Self-mutilation	3	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent		33
HP:0100851	HP:0000742	Self-mutilation	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0100851	HP:0000742	Self-mutilation	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0100851	HP:0012166	Skin-picking	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0100851	HP:0012168	Head-banging	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0012167	Hair-pulling	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0100851	HP:0000742	Self-mutilation	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0100851	HP:0000742	Self-mutilation	3	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0100851	HP:0000742	Self-mutilation	3	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0100851	HP:0012170	Nail-biting	4	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0100851	HP:0012170	Nail-biting	4	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	4	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0100851	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	4	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130