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:0031058	HP:0031058	Impairment of activities of daily living	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0031058	HP:0031058	Impairment of activities of daily living	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0031058	HP:0031058	Impairment of activities of daily living	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0031058	HP:0031058	Impairment of activities of daily living	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0031058	HP:0031058	Impairment of activities of daily living	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0031058	HP:0031058	Impairment of activities of daily living	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0031058	HP:0031058	Impairment of activities of daily living	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0031058	HP:0031058	Impairment of activities of daily living	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0031058	HP:0031058	Impairment of activities of daily living	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0031058	HP:0031058	Impairment of activities of daily living	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0031058	HP:0031058	Impairment of activities of daily living	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0031058	HP:0031058	Impairment of activities of daily living	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	284
HP:0031058	HP:0031058	Impairment of activities of daily living	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0031058	HP:0031058	Impairment of activities of daily living	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0031058	HP:0031058	Impairment of activities of daily living	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0031058	HP:0031058	Impairment of activities of daily living	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0031058	HP:0031058	Impairment of activities of daily living	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0031058	HP:0031058	Impairment of activities of daily living	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease		86
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0031058	HP:0031058	Impairment of activities of daily living	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0031058	HP:0031058	Impairment of activities of daily living	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0031058	HP:0031058	Impairment of activities of daily living	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0031058	HP:0031058	Impairment of activities of daily living	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0031058	HP:0031058	Impairment of activities of daily living	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0031058	HP:0031058	Impairment of activities of daily living	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0031058	HP:0031058	Impairment of activities of daily living	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0031058	HP:0031058	Impairment of activities of daily living	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0031058	HP:0031058	Impairment of activities of daily living	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0031058	HP:0031058	Impairment of activities of daily living	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0031058	HP:0031058	Impairment of activities of daily living	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0031058	HP:0031058	Impairment of activities of daily living	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	214
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0031058	HP:0031058	Impairment of activities of daily living	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0031058	HP:0031058	Impairment of activities of daily living	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031058	HP:0031058	Impairment of activities of daily living	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031058	Impairment of activities of daily living	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0031058	HP:0031058	Impairment of activities of daily living	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0031058	HP:0031058	Impairment of activities of daily living	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0031058	HP:0031058	Impairment of activities of daily living	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0031058	HP:0031058	Impairment of activities of daily living	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0031058	HP:0031058	Impairment of activities of daily living	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0031058	HP:0031058	Impairment of activities of daily living	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0031058	HP:0031059	Impaired ability to bathe oneself	1	CL E G H
HP:0031058	HP:0031063	Impaired feeding ability	1	CL E G H
HP:0031058	HP:0031062	Impaired transferring ability	1	CL E G H
HP:0031058	HP:0031064	Impaired continence	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0031058	HP:0031064	Impaired continence	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0031058	HP:0031064	Impaired continence	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0031058	HP:0031064	Impaired continence	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0031058	HP:0031064	Impaired continence	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0031058	HP:0031064	Impaired continence	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0031058	HP:0031064	Impaired continence	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0031058	HP:0031064	Impaired continence	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0031058	HP:0031064	Impaired continence	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0031058	HP:0031064	Impaired continence	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031058	HP:0031064	Impaired continence	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0031058	HP:0031064	Impaired continence	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0031058	HP:0031064	Impaired continence	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0031058	HP:0031064	Impaired continence	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0031058	HP:0031064	Impaired continence	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive		165
HP:0031058	HP:0031064	Impaired continence	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0031058	HP:0031064	Impaired continence	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0031058	HP:0031064	Impaired continence	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0031058	HP:0031064	Impaired continence	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0031058	HP:0031064	Impaired continence	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0031058	HP:0031064	Impaired continence	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0031058	HP:0031060	Impaired ability to dress oneself	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	71
HP:0031058	HP:0031064	Impaired continence	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0031058	HP:0031060	Impaired ability to dress oneself	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	5
HP:0031058	HP:0031064	Impaired continence	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0031058	HP:0031064	Impaired continence	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0031058	HP:0031064	Impaired continence	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0031058	HP:0031064	Impaired continence	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0031058	HP:0031064	Impaired continence	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0031058	HP:0031064	Impaired continence	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0031058	HP:0031064	Impaired continence	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0031058	HP:0031064	Impaired continence	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0031058	HP:0031064	Impaired continence	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0031058	HP:0031064	Impaired continence	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0031058	HP:0031064	Impaired continence	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0031058	HP:0031064	Impaired continence	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0031058	HP:0031064	Impaired continence	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		94
HP:0031058	HP:0031064	Impaired continence	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0031058	HP:0031064	Impaired continence	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0031058	HP:0031064	Impaired continence	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy		75
HP:0031058	HP:0031064	Impaired continence	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0031058	HP:0031064	Impaired continence	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0031058	HP:0031064	Impaired continence	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1		6
HP:0031058	HP:0031064	Impaired continence	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0031058	HP:0031064	Impaired continence	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		188
HP:0031058	HP:0031064	Impaired continence	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		225
HP:0031058	HP:0031064	Impaired continence	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		88
HP:0031058	HP:0031064	Impaired continence	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0031058	HP:0031064	Impaired continence	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0031058	HP:0031064	Impaired continence	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0031058	HP:0031064	Impaired continence	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0031058	HP:0031064	Impaired continence	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0031058	HP:0031064	Impaired continence	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0031058	HP:0031064	Impaired continence	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		1
HP:0031058	HP:0031064	Impaired continence	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0031058	HP:0031064	Impaired continence	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0031058	HP:0031064	Impaired continence	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0031058	HP:0031064	Impaired continence	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0031058	HP:0031064	Impaired continence	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		172
HP:0031058	HP:0031064	Impaired continence	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031058	HP:0031064	Impaired continence	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0031058	HP:0031064	Impaired continence	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0031058	HP:0031064	Impaired continence	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0031058	HP:0031064	Impaired continence	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0031058	HP:0031061	Impaired toileting ability	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0031058	HP:0031064	Impaired continence	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0031058	HP:0031064	Impaired continence	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0031058	HP:0031064	Impaired continence	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0031058	HP:0031064	Impaired continence	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0031058	HP:0031064	Impaired continence	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0031058	HP:0031064	Impaired continence	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0031058	HP:0031064	Impaired continence	1	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0031058	HP:0031064	Impaired continence	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0031058	HP:0031064	Impaired continence	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0031058	HP:0031064	Impaired continence	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0031058	HP:0031064	Impaired continence	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0031058	HP:0031064	Impaired continence	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0031058	HP:0031064	Impaired continence	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0031058	HP:0031064	Impaired continence	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0031058	HP:0031064	Impaired continence	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0031058	HP:0031064	Impaired continence	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0031058	HP:0031064	Impaired continence	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy		134
HP:0031058	HP:0031064	Impaired continence	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy		57
HP:0031058	HP:0031064	Impaired continence	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy		139
HP:0031058	HP:0031064	Impaired continence	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0031058	HP:0031064	Impaired continence	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0031058	HP:0031064	Impaired continence	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0031058	HP:0031064	Impaired continence	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0031058	HP:0031064	Impaired continence	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0031058	HP:0031064	Impaired continence	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease		86
HP:0031058	HP:0031064	Impaired continence	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0031058	HP:0031064	Impaired continence	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0031058	HP:0031064	Impaired continence	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0031058	HP:0031064	Impaired continence	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome		10
HP:0031058	HP:0031064	Impaired continence	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0031058	HP:0031064	Impaired continence	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0031058	HP:0031064	Impaired continence	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0031058	HP:0031064	Impaired continence	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0031058	HP:0031064	Impaired continence	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to		2
HP:0031058	HP:0031064	Impaired continence	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0031058	HP:0031064	Impaired continence	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0031058	HP:0031064	Impaired continence	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0031058	HP:0031064	Impaired continence	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0031058	HP:0031064	Impaired continence	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0031058	HP:0031064	Impaired continence	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant		46
HP:0031058	HP:0031064	Impaired continence	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0031058	HP:0031064	Impaired continence	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0031058	HP:0031064	Impaired continence	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0031058	HP:0031064	Impaired continence	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0031058	HP:0031064	Impaired continence	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0031058	HP:0031064	Impaired continence	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0031058	HP:0031064	Impaired continence	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0031058	HP:0031064	Impaired continence	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0031058	HP:0031064	Impaired continence	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy		321
HP:0031058	HP:0031064	Impaired continence	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0031058	HP:0031064	Impaired continence	1	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0031058	HP:0031064	Impaired continence	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0031058	HP:0031064	Impaired continence	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0031058	HP:0031064	Impaired continence	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0031058	HP:0031064	Impaired continence	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0031058	HP:0031064	Impaired continence	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0031058	HP:0031064	Impaired continence	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0031058	HP:0031064	Impaired continence	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0031058	HP:0031064	Impaired continence	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0031058	HP:0031064	Impaired continence	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0031058	HP:0031064	Impaired continence	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0031058	HP:0031064	Impaired continence	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031058	HP:0031064	Impaired continence	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0031058	HP:0031064	Impaired continence	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0031058	HP:0031064	Impaired continence	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0031058	HP:0031064	Impaired continence	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0031058	HP:0031064	Impaired continence	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant		117
HP:0031058	HP:0031064	Impaired continence	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0031058	HP:0031064	Impaired continence	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031058	HP:0031064	Impaired continence	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0031058	HP:0031064	Impaired continence	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0031058	HP:0031064	Impaired continence	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0031058	HP:0031064	Impaired continence	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to		1
HP:0031058	HP:0031064	Impaired continence	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0031058	HP:0031064	Impaired continence	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0031058	HP:0031064	Impaired continence	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0031058	HP:0031064	Impaired continence	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0031058	HP:0031061	Impaired toileting ability	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0031058	HP:0031064	Impaired continence	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0031058	HP:0031064	Impaired continence	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0031058	HP:0031064	Impaired continence	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0031058	HP:0031064	Impaired continence	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0031058	HP:0031064	Impaired continence	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0031058	HP:0031064	Impaired continence	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0031058	HP:0031064	Impaired continence	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0031058	HP:0031064	Impaired continence	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0031058	HP:0031064	Impaired continence	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0031058	HP:0031064	Impaired continence	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031064	Impaired continence	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0031058	HP:0031064	Impaired continence	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0031058	HP:0031064	Impaired continence	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0031058	HP:0031064	Impaired continence	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0031058	HP:0031064	Impaired continence	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0031058	HP:0031064	Impaired continence	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0031058	HP:0031064	Impaired continence	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0031058	HP:0031064	Impaired continence	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0031058	HP:0031064	Impaired continence	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0031058	HP:0031064	Impaired continence	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031064	Impaired continence	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0031058	HP:0031064	Impaired continence	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0031058	HP:0031064	Impaired continence	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0031058	HP:0031064	Impaired continence	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0031058	HP:0031064	Impaired continence	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy		255
HP:0031058	HP:0031064	Impaired continence	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031058	HP:0031064	Impaired continence	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0031058	HP:0031064	Impaired continence	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0031058	HP:0031064	Impaired continence	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0031058	HP:0031064	Impaired continence	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0031058	HP:0031064	Impaired continence	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant		208
HP:0031058	HP:0031064	Impaired continence	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0031058	HP:0031064	Impaired continence	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0031058	HP:0031064	Impaired continence	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0031058	HP:0031064	Impaired continence	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0031058	HP:0031060	Impaired ability to dress oneself	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	54
HP:0031058	HP:0031064	Impaired continence	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0031058	HP:0031060	Impaired ability to dress oneself	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	149
HP:0031058	HP:0031064	Impaired continence	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0031058	HP:0031064	Impaired continence	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0031058	HP:0031064	Impaired continence	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0031058	HP:0031064	Impaired continence	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0031058	HP:0031064	Impaired continence	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0031058	HP:0031064	Impaired continence	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0031058	HP:0031064	Impaired continence	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0031058	HP:0031064	Impaired continence	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0031058	HP:0031064	Impaired continence	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0031058	HP:0031064	Impaired continence	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0031058	HP:0031064	Impaired continence	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0031058	HP:0031064	Impaired continence	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0031058	HP:0031064	Impaired continence	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0031058	HP:0031064	Impaired continence	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0031058	HP:0031064	Impaired continence	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0031058	HP:0031064	Impaired continence	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0031058	HP:0031064	Impaired continence	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0031058	HP:0031064	Impaired continence	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0031058	HP:0031064	Impaired continence	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031058	HP:0031064	Impaired continence	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0031058	HP:0031064	Impaired continence	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0031058	HP:0031064	Impaired continence	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0031058	HP:0031064	Impaired continence	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0031058	HP:0031064	Impaired continence	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0031058	HP:0031064	Impaired continence	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0031058	HP:0031064	Impaired continence	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant		83
HP:0031058	HP:0031064	Impaired continence	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0031058	HP:0031064	Impaired continence	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0031058	HP:0031064	Impaired continence	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0031058	HP:0031064	Impaired continence	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive		189
HP:0031058	HP:0031064	Impaired continence	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0031058	HP:0000020	Urinary incontinence	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0031058	HP:0002607	Bowel incontinence	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0031058	HP:0000020	Urinary incontinence	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0031058	HP:0002607	Bowel incontinence	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0031058	HP:0000020	Urinary incontinence	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040281 - Very frequent	47
HP:0031058	HP:0000020	Urinary incontinence	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0031058	HP:0000020	Urinary incontinence	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0031058	HP:0000020	Urinary incontinence	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional	89
HP:0031058	HP:0000020	Urinary incontinence	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0031058	HP:0000020	Urinary incontinence	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0031058	HP:0000020	Urinary incontinence	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0031058	HP:0000020	Urinary incontinence	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0031058	HP:0000020	Urinary incontinence	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0031058	HP:0000020	Urinary incontinence	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0031058	HP:0000020	Urinary incontinence	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0031058	HP:0000020	Urinary incontinence	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0031058	HP:0000020	Urinary incontinence	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0031058	HP:0002607	Bowel incontinence	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0031058	HP:0000020	Urinary incontinence	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0031058	HP:0000020	Urinary incontinence	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0031058	HP:0002607	Bowel incontinence	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0031058	HP:0000020	Urinary incontinence	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0031058	HP:0000020	Urinary incontinence	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0031058	HP:0002607	Bowel incontinence	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0031058	HP:0000020	Urinary incontinence	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0031058	HP:0000020	Urinary incontinence	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0031058	HP:0000020	Urinary incontinence	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0031058	HP:0000020	Urinary incontinence	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0031058	HP:0000020	Urinary incontinence	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0031058	HP:0000020	Urinary incontinence	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0031058	HP:0000020	Urinary incontinence	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0031058	HP:0002607	Bowel incontinence	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0031058	HP:0000020	Urinary incontinence	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0031058	HP:0000020	Urinary incontinence	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0031058	HP:0000020	Urinary incontinence	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0031058	HP:0000020	Urinary incontinence	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0031058	HP:0002607	Bowel incontinence	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0031058	HP:0000020	Urinary incontinence	2	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0031058	HP:0000020	Urinary incontinence	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0031058	HP:0000020	Urinary incontinence	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0031058	HP:0000020	Urinary incontinence	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	75
HP:0031058	HP:0000020	Urinary incontinence	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0031058	HP:0000020	Urinary incontinence	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0031058	HP:0002607	Bowel incontinence	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.	6
HP:0031058	HP:0000020	Urinary incontinence	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1	.	6
HP:0031058	HP:0000020	Urinary incontinence	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0031058	HP:0000020	Urinary incontinence	2	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0031058	HP:0000020	Urinary incontinence	2	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0031058	HP:0000020	Urinary incontinence	2	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0031058	HP:0000020	Urinary incontinence	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0031058	HP:0000020	Urinary incontinence	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0031058	HP:0002607	Bowel incontinence	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0031058	HP:0000020	Urinary incontinence	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0031058	HP:0000020	Urinary incontinence	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0031058	HP:0000020	Urinary incontinence	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0031058	HP:0000020	Urinary incontinence	2	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0031058	HP:0002607	Bowel incontinence	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0031058	HP:0000020	Urinary incontinence	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0031058	HP:0002607	Bowel incontinence	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0031058	HP:0002607	Bowel incontinence	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0031058	HP:0000020	Urinary incontinence	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	HP:0040283 - Occasional	29
HP:0031058	HP:0000020	Urinary incontinence	2	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0031058	HP:0000020	Urinary incontinence	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0031058	HP:0002607	Bowel incontinence	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0031058	HP:0000020	Urinary incontinence	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0031058	HP:0000020	Urinary incontinence	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0031058	HP:0000020	Urinary incontinence	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0031058	HP:0002607	Bowel incontinence	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0031058	HP:0002607	Bowel incontinence	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0031058	HP:0000020	Urinary incontinence	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0031058	HP:0002607	Bowel incontinence	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0031058	HP:0000020	Urinary incontinence	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0031058	HP:0000020	Urinary incontinence	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional	76
HP:0031058	HP:0000020	Urinary incontinence	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0031058	HP:0000020	Urinary incontinence	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0031058	HP:0000020	Urinary incontinence	2	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0031058	HP:0000020	Urinary incontinence	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0031058	HP:0002607	Bowel incontinence	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040284 - Very rare	111
HP:0031058	HP:0002607	Bowel incontinence	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0031058	HP:0000020	Urinary incontinence	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0031058	HP:0002607	Bowel incontinence	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional	30
HP:0031058	HP:0000020	Urinary incontinence	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0031058	HP:0000020	Urinary incontinence	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0031058	HP:0002607	Bowel incontinence	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0031058	HP:0000020	Urinary incontinence	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0031058	HP:0000020	Urinary incontinence	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0031058	HP:0000020	Urinary incontinence	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	134
HP:0031058	HP:0000020	Urinary incontinence	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	57
HP:0031058	HP:0000020	Urinary incontinence	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	139
HP:0031058	HP:0000020	Urinary incontinence	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0031058	HP:0000020	Urinary incontinence	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0031058	HP:0000020	Urinary incontinence	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0031058	HP:0000020	Urinary incontinence	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0031058	HP:0000020	Urinary incontinence	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0031058	HP:0000020	Urinary incontinence	2	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent	86
HP:0031058	HP:0000020	Urinary incontinence	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0031058	HP:0000020	Urinary incontinence	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	HP:0040282 - Frequent	37
HP:0031058	HP:0002607	Bowel incontinence	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0031058	HP:0000020	Urinary incontinence	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0031058	HP:0000020	Urinary incontinence	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0031058	HP:0000020	Urinary incontinence	2	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0031058	HP:0002607	Bowel incontinence	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0031058	HP:0000020	Urinary incontinence	2	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0031058	HP:0000020	Urinary incontinence	2	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0031058	HP:0000020	Urinary incontinence	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0031058	HP:0000020	Urinary incontinence	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0031058	HP:0002607	Bowel incontinence	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	9
HP:0031058	HP:0000020	Urinary incontinence	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0031058	HP:0000020	Urinary incontinence	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0031058	HP:0000020	Urinary incontinence	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0031058	HP:0000020	Urinary incontinence	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0031058	HP:0002607	Bowel incontinence	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0031058	HP:0000020	Urinary incontinence	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0031058	HP:0000020	Urinary incontinence	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0031058	HP:0000020	Urinary incontinence	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0031058	HP:0002607	Bowel incontinence	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	2
HP:0031058	HP:0002607	Bowel incontinence	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0031058	HP:0000020	Urinary incontinence	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare
HP:0031058	HP:0000020	Urinary incontinence	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0031058	HP:0000020	Urinary incontinence	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0031058	HP:0000020	Urinary incontinence	2	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0031058	HP:0000020	Urinary incontinence	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0031058	HP:0000020	Urinary incontinence	2	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0031058	HP:0002607	Bowel incontinence	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0031058	HP:0000020	Urinary incontinence	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0031058	HP:0002607	Bowel incontinence	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0031058	HP:0000020	Urinary incontinence	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0031058	HP:0002607	Bowel incontinence	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	5
HP:0031058	HP:0002607	Bowel incontinence	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0031058	HP:0002607	Bowel incontinence	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0031058	HP:0000020	Urinary incontinence	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0031058	HP:0000020	Urinary incontinence	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare	8
HP:0031058	HP:0000020	Urinary incontinence	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional	8
HP:0031058	HP:0000020	Urinary incontinence	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0031058	HP:0000020	Urinary incontinence	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0031058	HP:0000020	Urinary incontinence	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031058	HP:0000020	Urinary incontinence	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0031058	HP:0000020	Urinary incontinence	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0031058	HP:0000020	Urinary incontinence	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0031058	HP:0000020	Urinary incontinence	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040283 - Occasional	117
HP:0031058	HP:0000020	Urinary incontinence	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0031058	HP:0002607	Bowel incontinence	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0031058	HP:0000020	Urinary incontinence	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031058	HP:0000020	Urinary incontinence	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0031058	HP:0000020	Urinary incontinence	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0031058	HP:0000020	Urinary incontinence	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0031058	HP:0000020	Urinary incontinence	2	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0031058	HP:0000020	Urinary incontinence	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0031058	HP:0000020	Urinary incontinence	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0031058	HP:0000020	Urinary incontinence	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0031058	HP:0000020	Urinary incontinence	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.	4
HP:0031058	HP:0000020	Urinary incontinence	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0031058	HP:0002607	Bowel incontinence	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent	60
HP:0031058	HP:0000020	Urinary incontinence	2	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0031058	HP:0000020	Urinary incontinence	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0031058	HP:0000020	Urinary incontinence	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0031058	HP:0002607	Bowel incontinence	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0031058	HP:0000020	Urinary incontinence	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0031058	HP:0000020	Urinary incontinence	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0031058	HP:0000020	Urinary incontinence	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0031058	HP:0000020	Urinary incontinence	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0031058	HP:0002607	Bowel incontinence	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0031058	HP:0000020	Urinary incontinence	2	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0031058	HP:0000020	Urinary incontinence	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0031058	HP:0002607	Bowel incontinence	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional	25
HP:0031058	HP:0000020	Urinary incontinence	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0031058	HP:0000020	Urinary incontinence	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0031058	HP:0000020	Urinary incontinence	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0031058	HP:0002607	Bowel incontinence	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0031058	HP:0000020	Urinary incontinence	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional	16
HP:0031058	HP:0002607	Bowel incontinence	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0031058	HP:0000020	Urinary incontinence	2	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0031058	HP:0002607	Bowel incontinence	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0031058	HP:0000020	Urinary incontinence	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0031058	HP:0000020	Urinary incontinence	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0031058	HP:0000020	Urinary incontinence	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0031058	HP:0000020	Urinary incontinence	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0031058	HP:0000020	Urinary incontinence	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare	255
HP:0031058	HP:0002607	Bowel incontinence	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031058	HP:0000020	Urinary incontinence	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0031058	HP:0000020	Urinary incontinence	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0031058	HP:0002607	Bowel incontinence	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0031058	HP:0000020	Urinary incontinence	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0031058	HP:0000020	Urinary incontinence	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0031058	HP:0000020	Urinary incontinence	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0031058	HP:0000020	Urinary incontinence	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0031058	HP:0000020	Urinary incontinence	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0031058	HP:0000020	Urinary incontinence	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0031058	HP:0000020	Urinary incontinence	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0031058	HP:0000020	Urinary incontinence	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0031058	HP:0000020	Urinary incontinence	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0031058	HP:0000020	Urinary incontinence	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	HP:0040283 - Occasional	62
HP:0031058	HP:0000020	Urinary incontinence	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0031058	HP:0000020	Urinary incontinence	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0031058	HP:0000020	Urinary incontinence	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0031058	HP:0002607	Bowel incontinence	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0031058	HP:0000020	Urinary incontinence	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0031058	HP:0002607	Bowel incontinence	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0031058	HP:0000020	Urinary incontinence	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0031058	HP:0000020	Urinary incontinence	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0031058	HP:0002607	Bowel incontinence	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0031058	HP:0000020	Urinary incontinence	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0031058	HP:0000020	Urinary incontinence	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0031058	HP:0000020	Urinary incontinence	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional	1
HP:0031058	HP:0000020	Urinary incontinence	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0031058	HP:0002607	Bowel incontinence	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040283 - Occasional	140
HP:0031058	HP:0000020	Urinary incontinence	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0031058	HP:0000020	Urinary incontinence	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0031058	HP:0000020	Urinary incontinence	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0031058	HP:0000020	Urinary incontinence	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0031058	HP:0000020	Urinary incontinence	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0031058	HP:0002607	Bowel incontinence	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0031058	HP:0000020	Urinary incontinence	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0031058	HP:0002607	Bowel incontinence	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0031058	HP:0002607	Bowel incontinence	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0031058	HP:0000020	Urinary incontinence	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0031058	HP:0000020	Urinary incontinence	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0031058	HP:0000020	Urinary incontinence	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0031058	HP:0002607	Bowel incontinence	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0031058	HP:0000020	Urinary incontinence	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0031058	HP:0000020	Urinary incontinence	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0031058	HP:0000020	Urinary incontinence	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0031058	HP:0002607	Bowel incontinence	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0031058	HP:0000020	Urinary incontinence	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0031058	HP:0000020	Urinary incontinence	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0031058	HP:0002607	Bowel incontinence	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0031058	HP:0000020	Urinary incontinence	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0031058	HP:0002607	Bowel incontinence	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0031058	HP:0000020	Urinary incontinence	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0031058	HP:0040183	Encopresis	3	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0031058	HP:0040183	Encopresis	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0031058	HP:0010992	Stress urinary incontinence	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144