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:0000722	HP:0000722	Obsessive-compulsive behavior	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		530
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe	.	59
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	HP:0040284 - Very rare	219
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive		146
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	.	45
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease		141
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.	16
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	16
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome	.	223
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria		55
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		10
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		139
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	86
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		54
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1	HP:0040284 - Very rare	4
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NLGN1 CL E G H	22871	14291	OMIM:618830	Autism, susceptibility to, 20	.	4
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional	27
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent	225
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		1053
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		126
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		427
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		318
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	49
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features		2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1	HP:0040284 - Very rare	52
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SLITRK1 CL E G H	114798	20297	OMIM:613229	TRICHOTILLOMANIA	.	58
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		9
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy		108
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	HP:0040283 - Occasional	4
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040282 - Frequent	47
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040281 - Very frequent	278
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0000722	HP:0000722	Obsessive-compulsive behavior	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000722	HP:0030212	Collectionism	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	56
HP:0000722	HP:0030212	Collectionism	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	42
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040283 - Occasional	141
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional	55
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0000722	HP:0008770	Obsessive-compulsive trait	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:0000722	HP:0030212	Collectionism	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	126
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0000722	HP:0030212	Collectionism	1	HTR2A CL E G H	3356	5293	OMIM:164230	Obsessive-Compulsive disorder 1		4
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0030212	Collectionism	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	140
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0008770	Obsessive-compulsive trait	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0000722	HP:0030212	Collectionism	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	241
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.	2
HP:0000722	HP:0030212	Collectionism	1	SLC6A4 CL E G H	6532	11050	OMIM:164230	Obsessive-Compulsive disorder 1		52
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0008770	Obsessive-compulsive trait	1	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:0000722	HP:0030212	Collectionism	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	62
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	9
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0000722	HP:0030212	Collectionism	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent
HP:0000722	HP:0030212	Collectionism	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	31
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000722	HP:0030212	Collectionism	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040282 - Frequent	63
HP:0000722	HP:0008770	Obsessive-compulsive trait	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.