Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006000	HP:0006000	Ureteral obstruction	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0006000	HP:0006000	Ureteral obstruction	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0006000	HP:0006000	Ureteral obstruction	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0006000	HP:0006000	Ureteral obstruction	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0006000	HP:0006000	Ureteral obstruction	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0006000	HP:0006000	Ureteral obstruction	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0006000	HP:0006000	Ureteral obstruction	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006000	HP:0006000	Ureteral obstruction	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0006000	HP:0006000	Ureteral obstruction	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0006000	HP:0006000	Ureteral obstruction	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0006000	HP:0006000	Ureteral obstruction	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0006000	HP:0006000	Ureteral obstruction	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0006000	HP:0006000	Ureteral obstruction	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0006000	HP:0006000	Ureteral obstruction	0	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2	HP:0040282 - Frequent	70
HP:0006000	HP:0006000	Ureteral obstruction	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0006000	HP:0006000	Ureteral obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0006000	HP:0006000	Ureteral obstruction	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0006000	HP:0006000	Ureteral obstruction	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0006000	HP:0006000	Ureteral obstruction	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0006000	HP:0006000	Ureteral obstruction	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0006000	HP:0006000	Ureteral obstruction	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0006000	HP:0006000	Ureteral obstruction	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0006000	HP:0006000	Ureteral obstruction	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0006000	HP:0006000	Ureteral obstruction	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0006000	HP:0006000	Ureteral obstruction	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0006000	HP:0006000	Ureteral obstruction	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0006000	HP:0006000	Ureteral obstruction	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0006000	HP:0006000	Ureteral obstruction	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0006000	HP:0006000	Ureteral obstruction	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0006000	HP:0006000	Ureteral obstruction	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0006000	HP:0006000	Ureteral obstruction	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0006000	HP:0006000	Ureteral obstruction	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0006000	HP:0006000	Ureteral obstruction	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0006000	HP:0006000	Ureteral obstruction	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0006000	HP:0006000	Ureteral obstruction	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0006000	HP:0006000	Ureteral obstruction	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0006000	HP:0006000	Ureteral obstruction	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0006000	HP:0006000	Ureteral obstruction	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0006000	HP:0006000	Ureteral obstruction	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0006000	HP:0006000	Ureteral obstruction	0	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0006000	HP:0006000	Ureteral obstruction	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0006000	HP:0006000	Ureteral obstruction	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0006000	HP:0006000	Ureteral obstruction	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0006000	HP:0006000	Ureteral obstruction	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006000	HP:0006000	Ureteral obstruction	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0006000	HP:0030735	Ureterovesical junction obstruction	1	CL E G H
HP:0006000	HP:0000071	Ureteral stenosis	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0006000	HP:0000071	Ureteral stenosis	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0006000	HP:0000071	Ureteral stenosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040283 - Occasional	2
HP:0006000	HP:0000071	Ureteral stenosis	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0006000	HP:0000071	Ureteral stenosis	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0006000	HP:0000071	Ureteral stenosis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006000	HP:0000071	Ureteral stenosis	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0006000	HP:0000071	Ureteral stenosis	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0006000	HP:0000071	Ureteral stenosis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0006000	HP:0000071	Ureteral stenosis	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0006000	HP:0000071	Ureteral stenosis	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0006000	HP:0000071	Ureteral stenosis	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0006000	HP:0000071	Ureteral stenosis	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0006000	HP:0000071	Ureteral stenosis	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0006000	HP:0000071	Ureteral stenosis	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0006000	HP:0000071	Ureteral stenosis	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0006000	HP:0000071	Ureteral stenosis	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0006000	HP:0000071	Ureteral stenosis	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0006000	HP:0000071	Ureteral stenosis	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0006000	HP:0000071	Ureteral stenosis	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0006000	HP:0000071	Ureteral stenosis	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0006000	HP:0000071	Ureteral stenosis	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0006000	HP:0000071	Ureteral stenosis	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0006000	HP:0000071	Ureteral stenosis	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0006000	HP:0000071	Ureteral stenosis	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0006000	HP:0000071	Ureteral stenosis	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0006000	HP:0000071	Ureteral stenosis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0006000	HP:0000071	Ureteral stenosis	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0006000	HP:0000071	Ureteral stenosis	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0006000	HP:0000071	Ureteral stenosis	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0006000	HP:0000071	Ureteral stenosis	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0006000	HP:0000071	Ureteral stenosis	1	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0006000	HP:0000071	Ureteral stenosis	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0006000	HP:0000071	Ureteral stenosis	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0006000	HP:0000071	Ureteral stenosis	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0006000	HP:0000071	Ureteral stenosis	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006000	HP:0000071	Ureteral stenosis	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0006000	HP:0008714	Ureterovesical stenosis	2	CL E G H
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0006000	HP:0000074	Ureteropelvic junction obstruction	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC