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:0000076	HP:0000076	Vesicoureteral reflux	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040281 - Very frequent	23
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0000076	HP:0000076	Vesicoureteral reflux	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	HP:0040283 - Occasional	5
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040282 - Frequent	22
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0000076	HP:0000076	Vesicoureteral reflux	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000076	HP:0000076	Vesicoureteral reflux	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000076	HP:0000076	Vesicoureteral reflux	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0000076	HP:0000076	Vesicoureteral reflux	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0000076	HP:0000076	Vesicoureteral reflux	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	HP:0040284 - Very rare
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000076	HP:0000076	Vesicoureteral reflux	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0000076	HP:0000076	Vesicoureteral reflux	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000076	HP:0000076	Vesicoureteral reflux	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000076	HP:0000076	Vesicoureteral reflux	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0000076	HP:0000076	Vesicoureteral reflux	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0000076	HP:0000076	Vesicoureteral reflux	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0000076	HP:0000076	Vesicoureteral reflux	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000076	HP:0000076	Vesicoureteral reflux	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000076	HP:0000076	Vesicoureteral reflux	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	HP:0040282 - Frequent	12
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	HP:0040283 - Occasional	494
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0000076	HP:0000076	Vesicoureteral reflux	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent	39
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0000076	HP:0000076	Vesicoureteral reflux	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:0000076	HP:0000076	Vesicoureteral reflux	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional	37
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000076	HP:0000076	Vesicoureteral reflux	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000076	HP:0000076	Vesicoureteral reflux	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000076	HP:0000076	Vesicoureteral reflux	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000076	HP:0000076	Vesicoureteral reflux	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	304
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	237
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	129
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	.	50
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0000076	HP:0000076	Vesicoureteral reflux	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000076	HP:0000076	Vesicoureteral reflux	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	HP:0040283 - Occasional	24
HP:0000076	HP:0000076	Vesicoureteral reflux	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0000076	HP:0000076	Vesicoureteral reflux	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000076	HP:0000076	Vesicoureteral reflux	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0000076	HP:0000076	Vesicoureteral reflux	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000076	HP:0000076	Vesicoureteral reflux	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0000076	HP:0000076	Vesicoureteral reflux	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000076	HP:0000076	Vesicoureteral reflux	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000076	HP:0000076	Vesicoureteral reflux	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000076	HP:0000076	Vesicoureteral reflux	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000076	HP:0000076	Vesicoureteral reflux	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000076	HP:0033739	Secondary vesicoureteral reflux	1	CL E G H
HP:0000076	HP:0033738	Primary vesicoureteral reflux	1	CL E G H
HP:0000076	HP:0033733	Low-grade vesicoureteral reflux	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000076	HP:0033734	High-grade vesicoureteral reflux	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000076	HP:0033741	Grade IV vesicoureteral reflux	2	CL E G H
HP:0000076	HP:0033740	Grade V vesicoureteral reflux	2	CL E G H
HP:0000076	HP:0033735	Grade I vesicoureteral reflux	2	CL E G H
HP:0000076	HP:0033742	Intrarenal reflux	2	CL E G H
HP:0000076	HP:0033736	Grade II vesicoureteral reflux	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000076	HP:0033737	Grade III vesicoureteral reflux	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC