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:
Urethral obstruction (HP:0000796)

Parent Node:
Urethral valve (HP:0010481)

..Starting node
..Congenital posterior urethral valve (HP:0010957)

Term ID:

10957

Name:

Congenital posterior urethral valve

Synonym:

Posterior urethral valve; Posterior urethral valves

Definition:

A developmental defect resulting in an obstructing membrane in the posterior male urethra.

Comments:

Reference:

HP:0010957

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Genes (10) :APC2 BNC2 CHRM3 H19-ICR HNRNPH1 IGF2 MID1 NSD1 SETD2 SRCAP

Diseases (10) :ORPHA:821 OMIM:618612 ORPHA:93110 ORPHA:2970 OMIM:100100 OMIM:180860 OMIM:620083 OMIM:300000 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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