Human Phenotype Ontology

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

Parent Node:
Functional abnormality of the bladder (HP:0000009)

Parent Node:
Impaired continence (HP:0031064)

..Starting node
..Urinary incontinence (HP:0000020)

Term ID:

Name:

Urinary incontinence

Synonym:

Bladder incontinence; Loss of bladder control

Definition:

Loss of the ability to control the urinary bladder leading to involuntary urination.

Comments:

Reference:

HP:0000020

Genes and Diseases:

Child Nodes:

........

Stress urinary incontinence (HP:0010992)

Sister Nodes:

Bowel incontinence (HP:0002607)

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

Genes (145) :ABCD1 ADNP AKT1 ALDH18A1 ALMS1 ALS2 AP5Z1 ARSA ARX ATL1 ATP13A2 ATXN10 ATXN2 ATXN8 ATXN8OS AUH BAP1 BIN1 BNC2 C19ORF12 CABP4 CACNA1G CACNA1H CAPN1 CCL2 CFAP43 CHMP2B CHRNA2 CHRNA4 CHRNB2 CLCNKB COG5 COPB1 COQ2 CPT1C CRH CYP7B1 DDHD2 DEPDC5 DKK1 DNM2 DNMT1 DPH5 EIF2AK2 FA2H FAR1 FARS2 FITM2 FLVCR1 FMR1 FRMD5 FUS FUZ GAA GABRA1 GABRB3 GABRG2 GALC GALNT2 GBA2 GBE1 GJC2 HACE1 HEXB HLA-DQB1 HLA-DRB1 HMBS HPSE2 HS6ST2 HSPD1 HTRA1 IFT57 IGHMBP2 JRK KCNC3 KCND3 KCNT1 KIF5A KMT2B KY LRIG2 MNX1 MORC2 MTMR14 MYF6 MYO1H NEFL NEXMIF NF2 NIPA1 NOTCH2NLC NOTCH3 PANK2 PDCD1 PDGFB PDGFRB PEX11B PIK3CA PRDM8 PSAP RETREG1 RNF170 RSRC1 RTN2 RYR1 SACS SBF1 SCN9A SIGMAR1 SLC12A3 SLC1A4 SLC20A2 SLC2A1 SLC44A1 SLC9A6 SMARCB1 SMARCE1 SMO SPAST SPG11 SPG7 SPTLC1 SQSTM1 STUB1 SUFU SYNE1 TBCD TBP TBXT TERT TIMM50 TRAF7 TRIO TRPV4 TTR TYROBP UBAP1 VANGL1 VANGL2 VCP WASHC5 ZC4H2 ZEB2 ZFYVE26 ZMYM2

Diseases (132) :OMIM:300100 ORPHA:139399 ORPHA:404448 ORPHA:2495 ORPHA:447753 OMIM:601162 OMIM:616586 ORPHA:64 OMIM:205100 ORPHA:300605 OMIM:607225 ORPHA:306511 OMIM:613647 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:300419 OMIM:182600 ORPHA:306674 OMIM:603516 OMIM:183090 ORPHA:98760 OMIM:250950 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 OMIM:615033 ORPHA:268882 ORPHA:314404 OMIM:620070 OMIM:618877 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:618635 OMIM:609033 OMIM:300623 OMIM:620094 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:98768 ORPHA:98772 OMIM:604187 OMIM:619934 OMIM:617114 OMIM:176450 ORPHA:466768 OMIM:616688 OMIM:619482 ORPHA:101085 OMIM:300912 ORPHA:100988 OMIM:600363 OMIM:603472 OMIM:125310 ORPHA:136 OMIM:234200 OMIM:213600 OMIM:614920 OMIM:616640 OMIM:249900 OMIM:613115 OMIM:619686 OMIM:618402 ORPHA:100993 OMIM:604805 ORPHA:98 OMIM:615284 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.

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