Human Phenotype Ontology

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:0000073	HP:0000073	Ureteral duplication	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000073	HP:0000073	Ureteral duplication	0	AXIN1 CL E G H	8312	903	OMIM:607864	CAUDAL DUPLICATION ANOMALY		3
HP:0000073	HP:0000073	Ureteral duplication	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000073	HP:0000073	Ureteral duplication	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000073	HP:0000073	Ureteral duplication	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0000073	HP:0000073	Ureteral duplication	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0000073	HP:0000073	Ureteral duplication	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0000073	HP:0000073	Ureteral duplication	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0000073	HP:0000073	Ureteral duplication	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0000073	HP:0000073	Ureteral duplication	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000073	HP:0000073	Ureteral duplication	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000073	HP:0000073	Ureteral duplication	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0000073	HP:0000073	Ureteral duplication	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000073	HP:0000073	Ureteral duplication	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000073	HP:0000073	Ureteral duplication	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000073	HP:0000073	Ureteral duplication	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000073	HP:0000073	Ureteral duplication	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0000073	HP:0000073	Ureteral duplication	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000073	HP:0000073	Ureteral duplication	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000073	HP:0000073	Ureteral duplication	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000073	HP:0000073	Ureteral duplication	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0000073	HP:0000073	Ureteral duplication	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0000073	HP:0000073	Ureteral duplication	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0000073	HP:0000073	Ureteral duplication	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000073	HP:0000073	Ureteral duplication	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000073	HP:0000073	Ureteral duplication	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000073	HP:0000073	Ureteral duplication	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0000073	HP:0000073	Ureteral duplication	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000073	HP:0000073	Ureteral duplication	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000073	HP:0000073	Ureteral duplication	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000073	HP:0000073	Ureteral duplication	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000073	HP:0000073	Ureteral duplication	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0000073	HP:0000073	Ureteral duplication	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0000073	HP:0000073	Ureteral duplication	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000073	HP:0000073	Ureteral duplication	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional	12
HP:0000073	HP:0000073	Ureteral duplication	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000073	HP:0000073	Ureteral duplication	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional	6
HP:0000073	HP:0000073	Ureteral duplication	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000073	HP:0000073	Ureteral duplication	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0000073	HP:0000073	Ureteral duplication	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0000073	HP:0000073	Ureteral duplication	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0000073	HP:0000073	Ureteral duplication	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000073	HP:0000073	Ureteral duplication	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0000073	HP:0000073	Ureteral duplication	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0000073	HP:0000073	Ureteral duplication	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0000073	HP:0000073	Ureteral duplication	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0000073	HP:0000073	Ureteral duplication	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000073	HP:0000073	Ureteral duplication	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0000073	HP:0000073	Ureteral duplication	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000073	HP:0012571	Ureter fissus	1	CL E G H
HP:0000073	HP:0008705	Ureteral triplication	1	CL E G H
HP:0000073	HP:0012572	Ureter duplex	1	CL E G H
HP:0000073	HP:0030037	Bifid ureter	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0000073	HP:0030037	Bifid ureter	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000073	HP:0030037	Bifid ureter	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0000073	HP:0030037	Bifid ureter	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000073	HP:0030037	Bifid ureter	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0000073	HP:0030037	Bifid ureter	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000073	HP:0030037	Bifid ureter	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20