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 upper urinary tract (HP:0010935)

Parent Node:
Abnormality of the ureter (HP:0000069)

..Starting node
..Ureterocele (HP:0000070)

Term ID:

Name:

Ureterocele

Synonym:

Definition:

A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.

Comments:

Reference:

HP:0000070

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital megaureter (HP:0008676)

Hydroureter (HP:0000072)

Neoplasm of the ureter (HP:0100516)

Ureteral agenesis (HP:0012300)

Ureteral atresia (HP:0005999)

Ureteral duplication (HP:0000073)

Ureteral dysgenesis (HP:0008631)

Ureteral obstruction (HP:0006000)

Vesicoureteral reflux (HP:0000076)

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:0000070	HP:0000070	Ureterocele	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000070	HP:0000070	Ureterocele	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0000070	HP:0000070	Ureterocele	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0000070	HP:0000070	Ureterocele	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000070	HP:0000070	Ureterocele	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0000070	HP:0000070	Ureterocele	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000070	HP:0000070	Ureterocele	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000070	HP:0000070	Ureterocele	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0000070	HP:0000070	Ureterocele	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000070	HP:0000070	Ureterocele	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000070	HP:0000070	Ureterocele	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000070	HP:0000070	Ureterocele	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0000070	HP:0000070	Ureterocele	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000070	HP:0000070	Ureterocele	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000070	HP:0000070	Ureterocele	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000070	HP:0000070	Ureterocele	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000070	HP:0000070	Ureterocele	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000070	HP:0000070	Ureterocele	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000070	HP:0000070	Ureterocele	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000070	HP:0000070	Ureterocele	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000070	HP:0000070	Ureterocele	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000070	HP:0000070	Ureterocele	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000070	HP:0000070	Ureterocele	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0000070	HP:0000070	Ureterocele	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0000070	HP:0000070	Ureterocele	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0000070	HP:0000070	Ureterocele	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0000070	HP:0000070	Ureterocele	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000070	HP:0000070	Ureterocele	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000070	HP:0000070	Ureterocele	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1

Genes (28) :ARX CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 HNF1B ITGA6 ITGB4 KCNA1 LAMA3 LAMB3 LAMC2 LHX1 MAPRE2 NEUROD2 PEX6 PIGP PIGQ PLEC PNKP SCN1B SCN2A SIK1 SLC25A22 TP63 TRIM8

Diseases (8) :ORPHA:1934 ORPHA:261265 ORPHA:79403 ORPHA:158684 ORPHA:79404 OMIM:616734 OMIM:614863 OMIM:604292

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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