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:
Ureteral obstruction (HP:0006000)

Parent Node:
Ureteral stenosis (HP:0000071)

..Starting node
..Ureteropelvic junction obstruction (HP:0000074)

Term ID:

Name:

Ureteropelvic junction obstruction

Synonym:

Pelviureteric junction obstruction; Ureteropelvic junction stenosis

Definition:

Blockage of urine flow from the renal pelvis to the proximal ureter.

Comments:

Reference:

HP:0000074

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ureterovesical stenosis (HP:0008714)

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:0000074	HP:0000074	Ureteropelvic junction obstruction	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000074	HP:0000074	Ureteropelvic junction obstruction	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (22) :APC2 BRF1 DHCR7 DSTYK EYA1 GNB1 HNF1B HOXA13 KDM6A KMT2D MYOD1 NSD1 PIGL SETD2 SF3B2 SIX1 SIX5 SLC26A1 SLC35A2 TBX18 YY1 ZMYM2

Diseases (21) :ORPHA:821 ORPHA:444072 ORPHA:818 OMIM:270400 OMIM:610805 ORPHA:107 OMIM:616973 OMIM:137920 OMIM:140000 ORPHA:2438 ORPHA:2322 OMIM:147920 OMIM:618975 OMIM:280000 OMIM:164210 OMIM:167030 OMIM:300896 OMIM:143400 OMIM:617557 ORPHA:506358 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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