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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000020	HP:0000020	Urinary incontinence	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	709	61	300371
HP:0000020	HP:0000020	Urinary incontinence	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	73	347	443	606352
HP:0000020	HP:0000020	Urinary incontinence	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	16	536	22197	613653
HP:0000020	HP:0000020	Urinary incontinence	0	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	16	536	22197	613653
HP:0000020	HP:0000020	Urinary incontinence	0	ARSA CL E G H	410	309256				ORPHA	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	0	ARSA CL E G H	410	309263				ORPHA	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	85	220	11231	606439
HP:0000020	HP:0000020	Urinary incontinence	0	ATP13A2 CL E G H	23400	306674				ORPHA	1	44	365	30213	610513
HP:0000020	HP:0000020	Urinary incontinence	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	4	77	10549	611150
HP:0000020	HP:0000020	Urinary incontinence	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	12	128	890	600529
HP:0000020	HP:0000020	Urinary incontinence	0	C19orf12 CL E G H	83636	289560				ORPHA	1	38	206	25443	614297
HP:0000020	HP:0000020	Urinary incontinence	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	22	96	24537	609512
HP:0000020	HP:0000020	Urinary incontinence	0	CPT1C CL E G H	126129	444099				ORPHA	1	2	81	18540	608846
HP:0000020	HP:0000020	Urinary incontinence	0	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	1	63	199	2652	603711
HP:0000020	HP:0000020	Urinary incontinence	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	17	255	24682	609144
HP:0000020	HP:0000020	Urinary incontinence	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	81	281	3775	309550
HP:0000020	HP:0000020	Urinary incontinence	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	0	GBE1 CL E G H	2632	206583				ORPHA	1	74	231	4180	607839
HP:0000020	HP:0000020	Urinary incontinence	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	57	133	17494	608803
HP:0000020	HP:0000020	Urinary incontinence	0	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	126	218	4879	606873
HP:0000020	HP:0000020	Urinary incontinence	0	HMBS CL E G H	3145	176000	Acute intermittent porphyria	176000	C0162565	OMIM	1	423	210	4982	609806
HP:0000020	HP:0000020	Urinary incontinence	0	HPSE2 CL E G H	60495	2704				ORPHA	1	15	47	18374	613469
HP:0000020	HP:0000020	Urinary incontinence	0	HSPD1 CL E G H	3329	100994				ORPHA	1	6	128	5261	118190
HP:0000020	HP:0000020	Urinary incontinence	0	HSPD1 CL E G H	3329	605280	Spastic paraplegia 13	605280	C1854467	OMIM	1	6	128	5261	118190
HP:0000020	HP:0000020	Urinary incontinence	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	54	132	9476	602194
HP:0000020	HP:0000020	Urinary incontinence	0	IFT57 CL E G H	55081	617927	OROFACIODIGITAL SYNDROME XVIII	617927	CN244546	OMIM	1	2	27	17367	606621
HP:0000020	HP:0000020	Urinary incontinence	0	IGHMBP2 CL E G H	3508	604320	Spinal muscular atrophy, distal, autosomal recessive, 1	604320	C1858517	OMIM	1	143	683	5542	600502
HP:0000020	HP:0000020	Urinary incontinence	0	KCND3 CL E G H	3752	98772				ORPHA	1	29	168	6239	605411
HP:0000020	HP:0000020	Urinary incontinence	0	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	69	249	6323	602821
HP:0000020	HP:0000020	Urinary incontinence	0	LRIG2 CL E G H	9860	2704				ORPHA	1	6	55	20889	608869
HP:0000020	HP:0000020	Urinary incontinence	0	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	80	106	4979	142994
HP:0000020	HP:0000020	Urinary incontinence	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0000020	HP:0000020	Urinary incontinence	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	17	483	17043	608145
HP:0000020	HP:0000020	Urinary incontinence	0	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	379	591	7883	600276
HP:0000020	HP:0000020	Urinary incontinence	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	182	192	15894	606157
HP:0000020	HP:0000020	Urinary incontinence	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	23	44	8800	190040
HP:0000020	HP:0000020	Urinary incontinence	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	24	150	8804	173410
HP:0000020	HP:0000020	Urinary incontinence	0	PEX11B CL E G H	8799	614920	Peroxisome biogenesis disorder 14B	614920	C3554055	OMIM	1	8	247	8853	603867
HP:0000020	HP:0000020	Urinary incontinence	0	PRDM8 CL E G H	56978	616640	Epilepsy, progressive myoclonic, 10	616640	C4225258	OMIM	1	1	170	13993	616639
HP:0000020	HP:0000020	Urinary incontinence	0	PSAP CL E G H	5660	309256				ORPHA	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	0	PSAP CL E G H	5660	309263				ORPHA	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	0	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	0	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	6	289	25964	613114
HP:0000020	HP:0000020	Urinary incontinence	0	RTN2 CL E G H	6253	100993				ORPHA	1	5	113	10468	603183
HP:0000020	HP:0000020	Urinary incontinence	0	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	5	113	10468	603183
HP:0000020	HP:0000020	Urinary incontinence	0	SACS CL E G H	26278	98				ORPHA	1	264	1191	10519	604490
HP:0000020	HP:0000020	Urinary incontinence	0	SCN9A CL E G H	6335	243000	Indifference to pain, congenital, autosomal recessive	243000	C1855739	OMIM	1	129	1092	10597	603415
HP:0000020	HP:0000020	Urinary incontinence	0	SLC16A2 CL E G H	6567	59				ORPHA	1	88	257	10923	300095
HP:0000020	HP:0000020	Urinary incontinence	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	89	182	10947	158378
HP:0000020	HP:0000020	Urinary incontinence	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	28	351	11079	300231
HP:0000020	HP:0000020	Urinary incontinence	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	727	572	11233	604277
HP:0000020	HP:0000020	Urinary incontinence	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	1065	11226	610844
HP:0000020	HP:0000020	Urinary incontinence	0	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	111	460	11237	602783
HP:0000020	HP:0000020	Urinary incontinence	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	18	91	11588	600075
HP:0000020	HP:0000020	Urinary incontinence	0	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	82	539	18083	605427
HP:0000020	HP:0000020	Urinary incontinence	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	240	12405	176300
HP:0000020	HP:0000020	Urinary incontinence	0	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	14	42	12449	604142
HP:0000020	HP:0000020	Urinary incontinence	0	VANGL2 CL E G H	57216	182940	Neural tube defect	182940	C0027794	OMIM	1	12	19	15511	600533
HP:0000020	HP:0000020	Urinary incontinence	0	WASHC5 CL E G H	9897	100989				ORPHA	1	20	268	28984	610657
HP:0000020	HP:0000020	Urinary incontinence	0	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	20	268	28984	610657
HP:0000020	HP:0000020	Urinary incontinence	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	700	20761	612012
HP:0000020	HP:0000020	Urinary incontinence	1	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	709	61	300371
HP:0000020	HP:0000020	Urinary incontinence	1	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	73	347	443	606352
HP:0000020	HP:0000020	Urinary incontinence	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	16	536	22197	613653
HP:0000020	HP:0000020	Urinary incontinence	1	AP5Z1 CL E G H	9907	613647	Spastic paraplegia 48, autosomal recessive	613647	C3150901	OMIM	1	16	536	22197	613653
HP:0000020	HP:0000020	Urinary incontinence	1	ARSA CL E G H	410	309256				ORPHA	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	1	ARSA CL E G H	410	309263				ORPHA	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	1	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	1	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	85	220	11231	606439
HP:0000020	HP:0000020	Urinary incontinence	1	ATP13A2 CL E G H	23400	306674				ORPHA	1	44	365	30213	610513
HP:0000020	HP:0000020	Urinary incontinence	1	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	4	77	10549	611150
HP:0000020	HP:0000020	Urinary incontinence	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	12	128	890	600529
HP:0000020	HP:0000020	Urinary incontinence	1	C19orf12 CL E G H	83636	289560				ORPHA	1	38	206	25443	614297
HP:0000020	HP:0000020	Urinary incontinence	1	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	22	96	24537	609512
HP:0000020	HP:0000020	Urinary incontinence	1	CPT1C CL E G H	126129	444099				ORPHA	1	2	81	18540	608846
HP:0000020	HP:0000020	Urinary incontinence	1	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	1	63	199	2652	603711
HP:0000020	HP:0000020	Urinary incontinence	1	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	17	255	24682	609144
HP:0000020	HP:0000020	Urinary incontinence	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	81	281	3775	309550
HP:0000020	HP:0000020	Urinary incontinence	1	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	1	GBE1 CL E G H	2632	206583				ORPHA	1	74	231	4180	607839
HP:0000020	HP:0000020	Urinary incontinence	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	57	133	17494	608803
HP:0000020	HP:0000020	Urinary incontinence	1	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	126	218	4879	606873
HP:0000020	HP:0000020	Urinary incontinence	1	HMBS CL E G H	3145	176000	Acute intermittent porphyria	176000	C0162565	OMIM	1	423	210	4982	609806
HP:0000020	HP:0000020	Urinary incontinence	1	HPSE2 CL E G H	60495	2704				ORPHA	1	15	47	18374	613469
HP:0000020	HP:0000020	Urinary incontinence	1	HSPD1 CL E G H	3329	100994				ORPHA	1	6	128	5261	118190
HP:0000020	HP:0000020	Urinary incontinence	1	HSPD1 CL E G H	3329	605280	Spastic paraplegia 13	605280	C1854467	OMIM	1	6	128	5261	118190
HP:0000020	HP:0000020	Urinary incontinence	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	54	132	9476	602194
HP:0000020	HP:0000020	Urinary incontinence	1	IFT57 CL E G H	55081	617927	OROFACIODIGITAL SYNDROME XVIII	617927	CN244546	OMIM	1	2	27	17367	606621
HP:0000020	HP:0000020	Urinary incontinence	1	IGHMBP2 CL E G H	3508	604320	Spinal muscular atrophy, distal, autosomal recessive, 1	604320	C1858517	OMIM	1	143	683	5542	600502
HP:0000020	HP:0000020	Urinary incontinence	1	KCND3 CL E G H	3752	98772				ORPHA	1	29	168	6239	605411
HP:0000020	HP:0000020	Urinary incontinence	1	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	69	249	6323	602821
HP:0000020	HP:0000020	Urinary incontinence	1	LRIG2 CL E G H	9860	2704				ORPHA	1	6	55	20889	608869
HP:0000020	HP:0000020	Urinary incontinence	1	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	80	106	4979	142994
HP:0000020	HP:0000020	Urinary incontinence	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0000020	HP:0000020	Urinary incontinence	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	17	483	17043	608145
HP:0000020	HP:0000020	Urinary incontinence	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	379	591	7883	600276
HP:0000020	HP:0000020	Urinary incontinence	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	182	192	15894	606157
HP:0000020	HP:0000020	Urinary incontinence	1	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	23	44	8800	190040
HP:0000020	HP:0000020	Urinary incontinence	1	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	24	150	8804	173410
HP:0000020	HP:0000020	Urinary incontinence	1	PEX11B CL E G H	8799	614920	Peroxisome biogenesis disorder 14B	614920	C3554055	OMIM	1	8	247	8853	603867
HP:0000020	HP:0000020	Urinary incontinence	1	PRDM8 CL E G H	56978	616640	Epilepsy, progressive myoclonic, 10	616640	C4225258	OMIM	1	1	170	13993	616639
HP:0000020	HP:0000020	Urinary incontinence	1	PSAP CL E G H	5660	309256				ORPHA	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	1	PSAP CL E G H	5660	309263				ORPHA	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	1	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	1	RETREG1 CL E G H	54463	613115	Hereditary sensory and autonomic neuropathy type IIB	613115	C2751092	OMIM	1	6	289	25964	613114
HP:0000020	HP:0000020	Urinary incontinence	1	RTN2 CL E G H	6253	100993				ORPHA	1	5	113	10468	603183
HP:0000020	HP:0000020	Urinary incontinence	1	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	5	113	10468	603183
HP:0000020	HP:0000020	Urinary incontinence	1	SACS CL E G H	26278	98				ORPHA	1	264	1191	10519	604490
HP:0000020	HP:0000020	Urinary incontinence	1	SCN9A CL E G H	6335	243000	Indifference to pain, congenital, autosomal recessive	243000	C1855739	OMIM	1	129	1092	10597	603415
HP:0000020	HP:0000020	Urinary incontinence	1	SLC16A2 CL E G H	6567	59				ORPHA	1	88	257	10923	300095
HP:0000020	HP:0000020	Urinary incontinence	1	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	89	182	10947	158378
HP:0000020	HP:0000020	Urinary incontinence	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	28	351	11079	300231
HP:0000020	HP:0000020	Urinary incontinence	1	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	727	572	11233	604277
HP:0000020	HP:0000020	Urinary incontinence	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	1065	11226	610844
HP:0000020	HP:0000020	Urinary incontinence	1	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	111	460	11237	602783
HP:0000020	HP:0000020	Urinary incontinence	1	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	18	91	11588	600075
HP:0000020	HP:0000020	Urinary incontinence	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	82	539	18083	605427
HP:0000020	HP:0000020	Urinary incontinence	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	240	12405	176300
HP:0000020	HP:0000020	Urinary incontinence	1	TYROBP CL E G H	7305	221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	221770	C1857316	OMIM	1	14	42	12449	604142
HP:0000020	HP:0000020	Urinary incontinence	1	VANGL2 CL E G H	57216	182940	Neural tube defect	182940	C0027794	OMIM	1	12	19	15511	600533
HP:0000020	HP:0000020	Urinary incontinence	1	WASHC5 CL E G H	9897	100989				ORPHA	1	20	268	28984	610657
HP:0000020	HP:0000020	Urinary incontinence	1	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	20	268	28984	610657
HP:0000020	HP:0000020	Urinary incontinence	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	700	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000020	HP:0000020	Urinary incontinence	0	ALDH18A1 CL E G H	5832	447753				ORPHA	0	33	252	9722	138250
HP:0000020	HP:0000020	Urinary incontinence	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	0	33	252	9722	138250
HP:0000020	HP:0000020	Urinary incontinence	0	ARSA CL E G H	410	309271				ORPHA	0	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	0	ATXN8 CL E G H	724066	98760				ORPHA	0	2	2	32925	613289
HP:0000020	HP:0000020	Urinary incontinence	0	ATXN8OS CL E G H	6315	98760				ORPHA	0	5	69	10561	603680
HP:0000020	HP:0000020	Urinary incontinence	0	BIN1 CL E G H	274	169189				ORPHA	0	17	315	1052	601248
HP:0000020	HP:0000020	Urinary incontinence	0	CACNA1G CL E G H	8913	458803				ORPHA	0	12	167	1394	604065
HP:0000020	HP:0000020	Urinary incontinence	0	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	0	12	167	1394	604065
HP:0000020	HP:0000020	Urinary incontinence	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	0	19	152	29106	615003
HP:0000020	HP:0000020	Urinary incontinence	0	DKK1 CL E G H	22943	268882				ORPHA	0	4	22	2891	605189
HP:0000020	HP:0000020	Urinary incontinence	0	DNM2 CL E G H	1785	169189				ORPHA	0	52	506	2974	602378
HP:0000020	HP:0000020	Urinary incontinence	0	DNMT1 CL E G H	1786	314404				ORPHA	0	23	510	2976	126375
HP:0000020	HP:0000020	Urinary incontinence	0	FA2H CL E G H	79152	171629				ORPHA	0	54	194	21197	611026
HP:0000020	HP:0000020	Urinary incontinence	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	54	194	21197	611026
HP:0000020	HP:0000020	Urinary incontinence	0	GBA2 CL E G H	57704	352641				ORPHA	0	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	0	GBA2 CL E G H	57704	320391				ORPHA	0	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	0	HACE1 CL E G H	57531	464282				ORPHA	0	13	63	21033	610876
HP:0000020	HP:0000020	Urinary incontinence	0	KCNC3 CL E G H	3748	98768				ORPHA	0	12	94	6235	176264
HP:0000020	HP:0000020	Urinary incontinence	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	0	18	267	23573	616661
HP:0000020	HP:0000020	Urinary incontinence	0	MTMR14 CL E G H	64419	169189				ORPHA	0	3	73	26190	611089
HP:0000020	HP:0000020	Urinary incontinence	0	MYF6 CL E G H	4618	169189				ORPHA	0	2	64	7566	159991
HP:0000020	HP:0000020	Urinary incontinence	0	NIPA1 CL E G H	123606	100988				ORPHA	0	17	483	17043	608145
HP:0000020	HP:0000020	Urinary incontinence	0	PSAP CL E G H	5660	309271				ORPHA	0	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	0	RYR1 CL E G H	6261	169189				ORPHA	0	688	3094	10483	180901
HP:0000020	HP:0000020	Urinary incontinence	0	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	14	303	10542	603560
HP:0000020	HP:0000020	Urinary incontinence	0	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	0	98	267	11280	601530
HP:0000020	HP:0000020	Urinary incontinence	0	VCP CL E G H	7415	329478				ORPHA	0	65	260	12666	601023
HP:0000020	HP:0000020	Urinary incontinence	1	ALDH18A1 CL E G H	5832	447753				ORPHA	0	33	252	9722	138250
HP:0000020	HP:0000020	Urinary incontinence	1	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	0	33	252	9722	138250
HP:0000020	HP:0000020	Urinary incontinence	1	ARSA CL E G H	410	309271				ORPHA	0	254	567	713	607574
HP:0000020	HP:0000020	Urinary incontinence	1	ATXN8 CL E G H	724066	98760				ORPHA	0	2	2	32925	613289
HP:0000020	HP:0000020	Urinary incontinence	1	ATXN8OS CL E G H	6315	98760				ORPHA	0	5	69	10561	603680
HP:0000020	HP:0000020	Urinary incontinence	1	BIN1 CL E G H	274	169189				ORPHA	0	17	315	1052	601248
HP:0000020	HP:0000020	Urinary incontinence	1	CACNA1G CL E G H	8913	458803				ORPHA	0	12	167	1394	604065
HP:0000020	HP:0000020	Urinary incontinence	1	CACNA1G CL E G H	8913	616795	Spinocerebellar ataxia 42	616795	C4225205	OMIM	0	12	167	1394	604065
HP:0000020	HP:0000020	Urinary incontinence	1	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	0	19	152	29106	615003
HP:0000020	HP:0000020	Urinary incontinence	1	DKK1 CL E G H	22943	268882				ORPHA	0	4	22	2891	605189
HP:0000020	HP:0000020	Urinary incontinence	1	DNM2 CL E G H	1785	169189				ORPHA	0	52	506	2974	602378
HP:0000020	HP:0000020	Urinary incontinence	1	DNMT1 CL E G H	1786	314404				ORPHA	0	23	510	2976	126375
HP:0000020	HP:0000020	Urinary incontinence	1	FA2H CL E G H	79152	171629				ORPHA	0	54	194	21197	611026
HP:0000020	HP:0000020	Urinary incontinence	1	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	54	194	21197	611026
HP:0000020	HP:0000020	Urinary incontinence	1	GBA2 CL E G H	57704	320391				ORPHA	0	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	1	GBA2 CL E G H	57704	352641				ORPHA	0	23	194	18986	609471
HP:0000020	HP:0000020	Urinary incontinence	1	HACE1 CL E G H	57531	464282				ORPHA	0	13	63	21033	610876
HP:0000020	HP:0000020	Urinary incontinence	1	KCNC3 CL E G H	3748	98768				ORPHA	0	12	94	6235	176264
HP:0000020	HP:0000020	Urinary incontinence	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	0	18	267	23573	616661
HP:0000020	HP:0000020	Urinary incontinence	1	MTMR14 CL E G H	64419	169189				ORPHA	0	3	73	26190	611089
HP:0000020	HP:0000020	Urinary incontinence	1	MYF6 CL E G H	4618	169189				ORPHA	0	2	64	7566	159991
HP:0000020	HP:0000020	Urinary incontinence	1	NIPA1 CL E G H	123606	100988				ORPHA	0	17	483	17043	608145
HP:0000020	HP:0000020	Urinary incontinence	1	PSAP CL E G H	5660	309271				ORPHA	0	27	220	9498	176801
HP:0000020	HP:0000020	Urinary incontinence	1	RYR1 CL E G H	6261	169189				ORPHA	0	688	3094	10483	180901
HP:0000020	HP:0000020	Urinary incontinence	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	14	303	10542	603560
HP:0000020	HP:0000020	Urinary incontinence	1	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	0	98	267	11280	601530
HP:0000020	HP:0000020	Urinary incontinence	1	VCP CL E G H	7415	329478				ORPHA	0	65	260	12666	601023

Genes (74) :ABCD1 ALDH18A1 ALS2 AP5Z1 ARSA ATL1 ATP13A2 ATXN10 ATXN8 ATXN8OS AUH BIN1 C19ORF12 C19orf12 CACNA1G CHMP2B CPT1C CYP7B1 DDHD2 DKK1 DNM2 DNMT1 FA2H FLVCR1 FMR1 GBA2 GBE1 GJC2 HACE1 HEXB HMBS HPSE2 HSPD1 HTRA1 IFT57 IGHMBP2 KCNC3 KCND3 KIF5A LRIG2 MNX1 MORC2 MTMR14 MYF6 NEXMIF NIPA1 NOTCH3 PANK2 PDGFB PDGFRB PEX11B PRDM8 PSAP RETREG1 RTN2 RYR1 SACS SBF1 SCN9A SLC16A2 SLC20A2 SLC9A6 SPAST SPG11 SPG7 SQSTM1 TBP TRPV4 TTR TYROBP VANGL2 VCP WASHC5 ZFYVE26

Diseases (78) :300100 447753 601162 607225 306511 613647 309256 309263 309271 250100 182600 306674 603516 98760 250950 169189 289560 458803 616795 600795 444099 270800 615033 268882 314404 171629 612319 609033 300623 320391 352641 614409 206583 613206 464282 268800 176000 2704 100994 605280 600142 617927 604320 98768 98772 604187 176450 616688 300912 100988 600363 125310 234200 213600 614920 616640 249900 613115 100993 604805 98 615284 243000 59 300243 182601 604360 607259 617145 607136 606071 105210 221770 182940 329478 100989 603563 270700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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