Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000719	HP:0000719	Inappropriate behavior	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0000719	HP:0000719	Inappropriate behavior	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000719	HP:0000719	Inappropriate behavior	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0000719	HP:0000719	Inappropriate behavior	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0000719	HP:0000719	Inappropriate behavior	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000719	HP:0000719	Inappropriate behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0000719	HP:0000719	Inappropriate behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040282 - Frequent	56
HP:0000719	HP:0000719	Inappropriate behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0000719	HP:0000719	Inappropriate behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0000719	HP:0000719	Inappropriate behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0000719	HP:0000719	Inappropriate behavior	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0000719	HP:0000719	Inappropriate behavior	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0000719	HP:0000719	Inappropriate behavior	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0000719	HP:0000719	Inappropriate behavior	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000719	HP:0000719	Inappropriate behavior	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000719	HP:0000719	Inappropriate behavior	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000719	HP:0000719	Inappropriate behavior	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0000719	HP:0000719	Inappropriate behavior	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0000719	HP:0000719	Inappropriate behavior	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0000719	HP:0000719	Inappropriate behavior	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0000719	HP:0000719	Inappropriate behavior	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000719	HP:0000719	Inappropriate behavior	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent	69
HP:0000719	HP:0000719	Inappropriate behavior	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0000719	HP:0000719	Inappropriate 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:0000719	HP:0000719	Inappropriate behavior	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0000719	HP:0000719	Inappropriate behavior	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0000719	HP:0000719	Inappropriate behavior	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0000719	HP:0000719	Inappropriate behavior	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome		119
HP:0000719	HP:0000719	Inappropriate behavior	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000719	HP:0000719	Inappropriate behavior	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000719	HP:0000719	Inappropriate behavior	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000719	HP:0000719	Inappropriate behavior	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0000719	HP:0000719	Inappropriate behavior	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0000719	HP:0000719	Inappropriate behavior	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain		140
HP:0000719	HP:0000719	Inappropriate behavior	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0000719	HP:0000719	Inappropriate behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000719	HP:0000719	Inappropriate behavior	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0000719	HP:0000719	Inappropriate behavior	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000719	HP:0000719	Inappropriate behavior	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0000719	HP:0000719	Inappropriate behavior	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000719	HP:0000719	Inappropriate behavior	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0000719	HP:0000719	Inappropriate behavior	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000719	HP:0000719	Inappropriate behavior	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000719	HP:0000719	Inappropriate behavior	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0000719	HP:0000719	Inappropriate 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:0000719	HP:0000719	Inappropriate behavior	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000719	HP:0000719	Inappropriate behavior	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040281 - Very frequent	2
HP:0000719	HP:0000719	Inappropriate behavior	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0000719	HP:0000719	Inappropriate behavior	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0000719	HP:0000719	Inappropriate behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0000719	HP:0000719	Inappropriate behavior	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0000719	HP:0000719	Inappropriate behavior	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain		241
HP:0000719	HP:0000719	Inappropriate behavior	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0000719	HP:0000719	Inappropriate behavior	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		110
HP:0000719	HP:0000719	Inappropriate 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:0000719	HP:0000719	Inappropriate behavior	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome		93
HP:0000719	HP:0000719	Inappropriate behavior	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0000719	HP:0000719	Inappropriate behavior	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000719	HP:0000719	Inappropriate behavior	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0000719	HP:0000719	Inappropriate behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0000719	HP:0000719	Inappropriate behavior	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000719	HP:0000719	Inappropriate behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0000719	HP:0000719	Inappropriate behavior	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0000719	HP:0000719	Inappropriate behavior	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0000719	HP:0000719	Inappropriate behavior	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000719	HP:0000719	Inappropriate behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0000719	HP:0000719	Inappropriate behavior	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0000719	HP:0000719	Inappropriate behavior	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0000719	HP:0000719	Inappropriate behavior	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0000719	HP:0000719	Inappropriate behavior	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0000719	HP:0000719	Inappropriate behavior	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000719	HP:0000748	Inappropriate laughter	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000719	HP:0030215	Inappropriate crying	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000719	HP:0000748	Inappropriate laughter	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	4
HP:0000719	HP:0008768	Inappropriate sexual behavior	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0000719	HP:0000748	Inappropriate laughter	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000719	HP:0030215	Inappropriate crying	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0000719	HP:0000748	Inappropriate laughter	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0000719	HP:0000748	Inappropriate laughter	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0000719	HP:0000748	Inappropriate laughter	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0000719	HP:0000748	Inappropriate laughter	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000719	HP:0030215	Inappropriate crying	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000719	HP:0030215	Inappropriate crying	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0000719	HP:0000748	Inappropriate laughter	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0000719	HP:0030215	Inappropriate crying	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0000719	HP:0030215	Inappropriate crying	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	160
HP:0000719	HP:0000748	Inappropriate laughter	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0000719	HP:0000748	Inappropriate laughter	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:0000719	HP:0000748	Inappropriate laughter	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000719	HP:0008768	Inappropriate sexual behavior	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000719	HP:0000748	Inappropriate laughter	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:0000719	HP:0008768	Inappropriate sexual behavior	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0000719	HP:0000748	Inappropriate laughter	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0000719	HP:0030215	Inappropriate crying	1	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:0000719	HP:0000748	Inappropriate laughter	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000719	HP:0000748	Inappropriate laughter	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000719	HP:0030215	Inappropriate crying	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000719	HP:0008768	Inappropriate sexual behavior	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0000719	HP:0000748	Inappropriate laughter	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0000719	HP:0000748	Inappropriate laughter	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0000719	HP:0000748	Inappropriate laughter	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0000719	HP:0000748	Inappropriate laughter	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000719	HP:0000748	Inappropriate laughter	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0000719	HP:0030215	Inappropriate crying	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0000719	HP:0000748	Inappropriate laughter	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000719	HP:0000748	Inappropriate laughter	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0000719	HP:0030215	Inappropriate crying	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0000719	HP:0000748	Inappropriate laughter	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000719	HP:0000748	Inappropriate laughter	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0000719	HP:0000748	Inappropriate laughter	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000719	HP:0000748	Inappropriate laughter	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000719	HP:0030215	Inappropriate crying	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0000719	HP:0030215	Inappropriate crying	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000719	HP:0000748	Inappropriate laughter	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000719	HP:0030215	Inappropriate crying	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	81
HP:0000719	HP:0030215	Inappropriate crying	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0000719	HP:0000748	Inappropriate laughter	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0000719	HP:0008768	Inappropriate sexual behavior	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0000719	HP:0000748	Inappropriate laughter	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0000719	HP:0030215	Inappropriate crying	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0000719	HP:0030215	Inappropriate crying	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:0000719	HP:0000748	Inappropriate laughter	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional	12
HP:0000719	HP:0000748	Inappropriate laughter	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0000719	HP:0000748	Inappropriate laughter	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0000719	HP:0030215	Inappropriate crying	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0000719	HP:0000748	Inappropriate laughter	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000719	HP:0000748	Inappropriate laughter	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	37
HP:0000719	HP:0030215	Inappropriate crying	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000719	HP:0000748	Inappropriate laughter	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000719	HP:0000748	Inappropriate laughter	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000719	HP:0000748	Inappropriate laughter	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional	278
HP:0000719	HP:0000748	Inappropriate laughter	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	278
HP:0000719	HP:0000748	Inappropriate laughter	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0000719	HP:0030220	Socially inappropriate behavior	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0000719	HP:0000748	Inappropriate laughter	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000719	HP:0030214	Hypersexuality	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	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:0000719	HP:0030214	Hypersexuality	2	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0000719	HP:0000749	Paroxysmal bursts of laughter	2	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6