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:0000796	HP:0000796	Urethral obstruction	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000796	HP:0000796	Urethral obstruction	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000796	HP:0000796	Urethral obstruction	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000796	HP:0000796	Urethral obstruction	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000796	HP:0000796	Urethral obstruction	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000796	HP:0000796	Urethral obstruction	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000796	HP:0000796	Urethral obstruction	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000796	HP:0000796	Urethral obstruction	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0000796	HP:0000796	Urethral obstruction	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000796	HP:0000796	Urethral obstruction	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0000796	HP:0000796	Urethral obstruction	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000796	HP:0000796	Urethral obstruction	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000796	HP:0000796	Urethral obstruction	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000796	HP:0000796	Urethral obstruction	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000796	HP:0000796	Urethral obstruction	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000796	HP:0000796	Urethral obstruction	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000796	HP:0000796	Urethral obstruction	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000796	HP:0000796	Urethral obstruction	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000796	HP:0000796	Urethral obstruction	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0000796	HP:0000796	Urethral obstruction	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000796	HP:0000796	Urethral obstruction	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000796	HP:0000796	Urethral obstruction	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000796	HP:0000796	Urethral obstruction	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000796	HP:0000796	Urethral obstruction	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000796	HP:0000796	Urethral obstruction	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000796	HP:0000796	Urethral obstruction	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000796	HP:0000796	Urethral obstruction	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000796	HP:0000796	Urethral obstruction	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000796	HP:0000796	Urethral obstruction	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0000796	HP:0000796	Urethral obstruction	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000796	HP:0000796	Urethral obstruction	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000796	HP:0000796	Urethral obstruction	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000796	HP:0000796	Urethral obstruction	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000796	HP:0000796	Urethral obstruction	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000796	HP:0000796	Urethral obstruction	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000796	HP:0000796	Urethral obstruction	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0000796	HP:0000796	Urethral obstruction	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0000796	HP:0000796	Urethral obstruction	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0000796	HP:0000796	Urethral obstruction	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000796	HP:0000796	Urethral obstruction	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0000796	HP:0000796	Urethral obstruction	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000796	HP:0000796	Urethral obstruction	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000796	HP:0000796	Urethral obstruction	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000796	HP:0000796	Urethral obstruction	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000796	HP:0000796	Urethral obstruction	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0000796	HP:0000796	Urethral obstruction	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0000796	HP:0000796	Urethral obstruction	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000796	HP:0000796	Urethral obstruction	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000796	HP:0000796	Urethral obstruction	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000796	HP:0000796	Urethral obstruction	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000796	HP:0000796	Urethral obstruction	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000796	HP:0000796	Urethral obstruction	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0000796	HP:0000796	Urethral obstruction	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0000796	HP:0000796	Urethral obstruction	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0000796	HP:0000796	Urethral obstruction	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000796	HP:0000796	Urethral obstruction	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0000796	HP:0000796	Urethral obstruction	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000796	HP:0000796	Urethral obstruction	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000796	HP:0000796	Urethral obstruction	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0000796	HP:0000796	Urethral obstruction	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0000796	HP:0000796	Urethral obstruction	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000796	HP:0000796	Urethral obstruction	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0000796	HP:0000796	Urethral obstruction	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000796	HP:0010481	Urethral valve	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000796	HP:0034378	Urethrovesical occlusion	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000796	HP:0008661	Urethral stenosis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0010481	Urethral valve	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000796	HP:0034378	Urethrovesical occlusion	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000796	HP:0008661	Urethral stenosis	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000796	HP:0010481	Urethral valve	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000796	HP:0008661	Urethral stenosis	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0000796	HP:0034378	Urethrovesical occlusion	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000796	HP:0008661	Urethral stenosis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000796	HP:0034378	Urethrovesical occlusion	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000796	HP:0010481	Urethral valve	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000796	HP:0010481	Urethral valve	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000796	HP:0034378	Urethrovesical occlusion	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000796	HP:0008661	Urethral stenosis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0000796	HP:0008661	Urethral stenosis	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000796	HP:0008661	Urethral stenosis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0000796	HP:0010481	Urethral valve	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000796	HP:0008661	Urethral stenosis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0000796	HP:0008661	Urethral stenosis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000796	HP:0008661	Urethral stenosis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000796	HP:0008661	Urethral stenosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000796	HP:0008661	Urethral stenosis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000796	HP:0008661	Urethral stenosis	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000796	HP:0008661	Urethral stenosis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000796	HP:0008661	Urethral stenosis	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000796	HP:0008661	Urethral stenosis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000796	HP:0008661	Urethral stenosis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000796	HP:0008661	Urethral stenosis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000796	HP:0010481	Urethral valve	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000796	HP:0034378	Urethrovesical occlusion	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0000796	HP:0034378	Urethrovesical occlusion	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000796	HP:0010481	Urethral valve	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000796	HP:0010481	Urethral valve	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000796	HP:0034378	Urethrovesical occlusion	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0000796	HP:0010481	Urethral valve	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000796	HP:0008661	Urethral stenosis	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000796	HP:0008661	Urethral stenosis	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0000796	HP:0034378	Urethrovesical occlusion	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000796	HP:0008661	Urethral stenosis	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000796	HP:0008661	Urethral stenosis	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000796	HP:0008661	Urethral stenosis	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000796	HP:0008661	Urethral stenosis	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000796	HP:0008661	Urethral stenosis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000796	HP:0008661	Urethral stenosis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000796	HP:0034378	Urethrovesical occlusion	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000796	HP:0010481	Urethral valve	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000796	HP:0008661	Urethral stenosis	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0000796	HP:0008661	Urethral stenosis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000796	HP:0008661	Urethral stenosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000796	HP:0008661	Urethral stenosis	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0000796	HP:0008661	Urethral stenosis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000796	HP:0008661	Urethral stenosis	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0000796	HP:0008661	Urethral stenosis	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0000796	HP:0008661	Urethral stenosis	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0000796	HP:0010481	Urethral valve	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000796	HP:0034378	Urethrovesical occlusion	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000796	HP:0008661	Urethral stenosis	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0000796	HP:0008661	Urethral stenosis	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000796	HP:0008661	Urethral stenosis	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000796	HP:0034378	Urethrovesical occlusion	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000796	HP:0008661	Urethral stenosis	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000796	HP:0008661	Urethral stenosis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional	43
HP:0000796	HP:0008661	Urethral stenosis	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0000796	HP:0010481	Urethral valve	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000796	HP:0010481	Urethral valve	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000796	HP:0010481	Urethral valve	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000796	HP:0034378	Urethrovesical occlusion	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000796	HP:0034378	Urethrovesical occlusion	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000796	HP:0010481	Urethral valve	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000796	HP:0010481	Urethral valve	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0000796	HP:0034378	Urethrovesical occlusion	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000796	HP:0008661	Urethral stenosis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0000796	HP:0008661	Urethral stenosis	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0000796	HP:0008661	Urethral stenosis	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0000796	HP:0008661	Urethral stenosis	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0000796	HP:0008661	Urethral stenosis	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0000796	HP:0008661	Urethral stenosis	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000796	HP:0008661	Urethral stenosis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000796	HP:0008661	Urethral stenosis	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0000796	HP:0008661	Urethral stenosis	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0000796	HP:0008661	Urethral stenosis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000796	HP:0008661	Urethral stenosis	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0000796	HP:0008661	Urethral stenosis	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000796	HP:0008664	Urethral sphincter sclerosis	2	CL E G H
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent	22
HP:0000796	HP:0012227	Urethral stricture	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000796	HP:0012227	Urethral stricture	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0000796	HP:0012227	Urethral stricture	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0000796	HP:0012227	Urethral stricture	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0000796	HP:0012227	Urethral stricture	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000796	HP:0012227	Urethral stricture	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000796	HP:0012227	Urethral stricture	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000796	HP:0012227	Urethral stricture	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000796	HP:0012227	Urethral stricture	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000796	HP:0012227	Urethral stricture	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000796	HP:0012227	Urethral stricture	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0000796	HP:0012227	Urethral stricture	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000796	HP:0012227	Urethral stricture	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0000796	HP:0012227	Urethral stricture	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000796	HP:0012227	Urethral stricture	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000796	HP:0010957	Congenital posterior urethral valve	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000796	HP:0012227	Urethral stricture	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000796	HP:0012227	Urethral stricture	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0000796	HP:0012227	Urethral stricture	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000796	HP:0025414	Pendulous urethral stricture	3	CL E G H
HP:0000796	HP:0025413	Fossa navicularis urethral stricture	3	CL E G H
HP:0000796	HP:0025415	Bulbar urethral stricture	3	CL E G H