Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Constitutional symptom (HP:0025142)

Parent Node:
Impairment of activities of daily living (HP:0031058)

..Starting node
..Impaired continence (HP:0031064)

Term ID:

31064

Name:

Impaired continence

Synonym:

Definition:

Partial or total incontinence of bowel or bladder.

Comments:

Reference:

HP:0031064

Genes and Diseases:

Child Nodes:

........

Urinary incontinence (HP:0000020)

................... HP:0010992 Stress urinary incontinence

........

Bowel incontinence (HP:0002607)

................... HP:0040183 Encopresis

Sister Nodes:

Impaired ability to bathe oneself (HP:0031059)

Impaired ability to dress oneself (HP:0031060)

Impaired feeding ability (HP:0031063)

Impaired toileting ability (HP:0031061)

Impaired transferring ability (HP:0031062)

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

Genes (169) :ABCD1 ACSF3 ADNP AKT1 ALDH18A1 ALMS1 ALS2 AP5Z1 ARSA ARVCF ARX ATL1 ATP13A2 ATXN10 ATXN2 ATXN8 ATXN8OS AUH BAP1 BCR BIN1 BNC2 C19ORF12 CABP4 CACNA1G CACNA1H CAPN1 CCL2 CFAP43 CHMP2B CHRNA2 CHRNA4 CHRNB2 CLCNKB COG5 COMT COPB1 COQ2 CPT1C CRH CRKL CYP7B1 DACT1 DDHD2 DEPDC5 DKK1 DMPK DNM2 DNMT1 DPH5 DSTYK EIF2AK2 FA2H FAR1 FARS2 FITM2 FLVCR1 FMR1 FRMD5 FUS FUZ GAA GABRA1 GABRB3 GABRG2 GALC GALNT2 GBA2 GBE1 GJC2 GP1BB HACE1 HEXB HIRA HLA-DQB1 HLA-DRB1 HMBS HPSE2 HS6ST2 HSPD1 HTRA1 IFT57 IGHMBP2 ISL1 JMJD1C JRK KCNC3 KCND3 KCNT1 KIF5A KMT2B KY LMNB1 LRIG2 MAPK1 MAPK8IP3 MNX1 MORC2 MTMR14 MYF6 MYO1H NEFL NEXMIF NF2 NIPA1 NOP56 NOTCH2NLC NOTCH3 PANK2 PDCD1 PDGFB PDGFRB PEX11B PIK3CA PLP1 PRDM8 PSAP RETREG1 RNF170 RREB1 RSRC1 RTN2 RYR1 SACS SALL1 SBF1 SCN4A SCN9A SEC24C SIGMAR1 SLC12A3 SLC1A4 SLC20A2 SLC2A1 SLC44A1 SLC9A6 SMARCB1 SMARCE1 SMO SPAST SPG11 SPG7 SPTLC1 SQSTM1 STUB1 SUFU SYNE1 TBCD TBP TBX1 TBXT TERT TIMM50 TP63 TRAF7 TRIO TRPV4 TTR TYROBP UBAP1 UFD1 VANGL1 VANGL2 VCP WASHC5 ZC4H2 ZEB2 ZFYVE26 ZMYM2

Diseases (148) :OMIM:300100 ORPHA:139399 ORPHA:289504 ORPHA:404448 ORPHA:2495 ORPHA:447753 ORPHA:447760 OMIM:601162 OMIM:616586 ORPHA:64 OMIM:205100 ORPHA:300605 OMIM:607225 ORPHA:306511 OMIM:613647 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:567 OMIM:300419 OMIM:182600 ORPHA:306674 OMIM:603516 OMIM:183090 ORPHA:98760 OMIM:250950 ORPHA:261330 ORPHA:169189 OMIM:618612 ORPHA:93110 ORPHA:289560 ORPHA:98784 OMIM:616795 ORPHA:458803 ORPHA:64280 OMIM:616907 OMIM:182940 OMIM:236690 OMIM:600795 ORPHA:358 ORPHA:263487 OMIM:619255 OMIM:146500 ORPHA:444099 OMIM:270800 ORPHA:857 OMIM:615033 ORPHA:268882 ORPHA:589821 ORPHA:314404 OMIM:620070 ORPHA:101003 OMIM:618877 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:618635 OMIM:609033 ORPHA:88628 OMIM:300623 ORPHA:93256 OMIM:620094 ORPHA:3027 OMIM:232300 ORPHA:206448 OMIM:618885 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:206583 OMIM:263570 OMIM:613206 ORPHA:464282 OMIM:268800 ORPHA:309162 OMIM:126200 ORPHA:79276 OMIM:176000 ORPHA:2704 OMIM:301025 ORPHA:100994 OMIM:605280 OMIM:600142 OMIM:617927 OMIM:604320 ORPHA:93930 ORPHA:98768 ORPHA:98772 OMIM:604187 OMIM:619934 OMIM:617114 OMIM:169500 OMIM:618443 OMIM:176450 ORPHA:466768 OMIM:616688 OMIM:619482 ORPHA:101085 OMIM:300912 ORPHA:100988 OMIM:600363 ORPHA:276198 OMIM:603472 OMIM:125310 ORPHA:136 OMIM:234200 OMIM:213600 OMIM:614920 ORPHA:99015 OMIM:616640 OMIM:249900 OMIM:613115 OMIM:619686 OMIM:618402 ORPHA:100993 OMIM:604805 ORPHA:98 OMIM:615284 ORPHA:682 OMIM:243000 ORPHA:447997 OMIM:618868 OMIM:300243 OMIM:182601 OMIM:602099 OMIM:604360 OMIM:607259 OMIM:617145 OMIM:618093 ORPHA:88644 ORPHA:496641 OMIM:617193 OMIM:607136 ORPHA:505216 OMIM:617698 ORPHA:476126 OMIM:606071 OMIM:105210 OMIM:221770 ORPHA:329478 ORPHA:100989 OMIM:603563 OMIM:301041 ORPHA:261552 ORPHA:261537 OMIM:270700 OMIM:619522

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen