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:
Abnormality of the urethra (HP:0000795)

Parent Node:
Urethral obstruction (HP:0000796)

..Starting node
..Urethral stenosis (HP:0008661)

Term ID:

8661

Name:

Urethral stenosis

Synonym:

Narrowing of the urethra

Definition:

Abnormal narrowing of the urethra.

Comments:

Reference:

HP:0008661

Genes and Diseases:

Child Nodes:

........

Urethral sphincter sclerosis (HP:0008664)

........

Urethral stricture (HP:0012227)

................... HP:0025413 Fossa navicularis urethral stricture
................... HP:0025414 Pendulous urethral stricture
................... HP:0025415 Bulbar urethral stricture

Sister Nodes:

Urethral valve (HP:0010481)

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

Genes (54) :BAZ1B BCL7B BNC2 BUD23 CDC45 CLIP2 COL7A1 CTC1 DKC1 DNAJC30 EIF4H ELN FERMT1 FKBP6 FLNA FLT4 GTF2I GTF2IRD1 GTF2IRD2 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 LIMK1 MAP3K7 METTL27 MKKS MLXIPL MMP1 NCF1 NHP2 NOP10 NPM1 PARN PKP1 PLEC POLA1 RFC2 RIN2 RTEL1 STX1A TBL2 TBX1 TERC TERT TINF2 TMEM270 TP63 TYMS USB1 VPS37D WRAP53 ZMYM2

Diseases (26) :ORPHA:904 OMIM:618612 ORPHA:93110 OMIM:617063 ORPHA:79408 ORPHA:79409 ORPHA:1775 OMIM:305000 OMIM:194050 ORPHA:2908 OMIM:173650 ORPHA:1826 OMIM:153100 ORPHA:79403 OMIM:619816 ORPHA:79404 ORPHA:2473 ORPHA:158668 OMIM:226670 OMIM:301220 OMIM:613075 ORPHA:1727 OMIM:613989 OMIM:613990 OMIM:604292 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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