Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 valve (HP:0010481)

Term ID:

10481

Name:

Urethral valve

Synonym:

Definition:

The presence of an abnormal membrane obstructing the urethra.

Comments:

Reference:

HP:0010481

Genes and Diseases:

Child Nodes:

........

Congenital posterior urethral valve (HP:0010957)

Sister Nodes:

Urethral stenosis (HP:0008661)

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:0010481	HP:0010481	Urethral valve	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010481	HP:0010481	Urethral valve	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010481	HP:0010481	Urethral valve	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010481	HP:0010481	Urethral valve	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010481	HP:0010481	Urethral valve	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010481	HP:0010481	Urethral valve	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0010481	HP:0010481	Urethral valve	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0010481	HP:0010481	Urethral valve	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010481	HP:0010481	Urethral valve	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0010481	HP:0010481	Urethral valve	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0010481	HP:0010481	Urethral valve	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010481	HP:0010481	Urethral valve	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010481	HP:0010481	Urethral valve	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0010481	HP:0010481	Urethral valve	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010481	HP:0010481	Urethral valve	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010481	HP:0010481	Urethral valve	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010481	HP:0010481	Urethral valve	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent	22
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010481	HP:0010957	Congenital posterior urethral valve	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138

Genes (13) :APC2 BNC2 CHRM3 DACT1 H19-ICR HNRNPH1 HPSE2 IGF2 MID1 NSD1 SALL1 SETD2 SRCAP

Diseases (13) :ORPHA:821 OMIM:618612 ORPHA:93110 ORPHA:2970 OMIM:100100 ORPHA:857 OMIM:180860 OMIM:620083 OMIM:236730 OMIM:300000 OMIM:107480 OMIM:136140 ORPHA:2044

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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