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:0000069	HP:0000069	Abnormality of the ureter	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0000069	HP:0000069	Abnormality of the ureter	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0000069	HP:0000069	Abnormality of the ureter	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000069	HP:0000069	Abnormality of the ureter	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0000069	HP:0000069	Abnormality of the ureter	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0000069	HP:0000069	Abnormality of the ureter	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000069	HP:0000069	Abnormality of the ureter	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0000069	HP:0000069	Abnormality of the ureter	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0000069	HP:0000069	Abnormality of the ureter	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000069	HP:0000069	Abnormality of the ureter	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000069	HP:0000069	Abnormality of the ureter	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000069	HP:0000069	Abnormality of the ureter	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0000069	HP:0000069	Abnormality of the ureter	0	AXIN1 CL E G H	8312	903	OMIM:607864	CAUDAL DUPLICATION ANOMALY		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000069	HP:0000069	Abnormality of the ureter	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000069	HP:0000069	Abnormality of the ureter	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000069	HP:0000069	Abnormality of the ureter	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000069	HP:0000069	Abnormality of the ureter	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000069	HP:0000069	Abnormality of the ureter	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000069	HP:0000069	Abnormality of the ureter	0	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000069	HP:0000069	Abnormality of the ureter	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000069	HP:0000069	Abnormality of the ureter	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000069	HP:0000069	Abnormality of the ureter	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000069	HP:0000069	Abnormality of the ureter	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000069	HP:0000069	Abnormality of the ureter	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0000069	HP:0000069	Abnormality of the ureter	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000069	HP:0000069	Abnormality of the ureter	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000069	HP:0000069	Abnormality of the ureter	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0000069	HP:0000069	Abnormality of the ureter	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000069	HP:0000069	Abnormality of the ureter	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0000069	HP:0000069	Abnormality of the ureter	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0000069	HP:0000069	Abnormality of the ureter	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0000069	HP:0000069	Abnormality of the ureter	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000069	HP:0000069	Abnormality of the ureter	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0000069	HP:0000069	Abnormality of the ureter	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000069	HP:0000069	Abnormality of the ureter	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000069	HP:0000069	Abnormality of the ureter	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000069	HP:0000069	Abnormality of the ureter	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0000069	HP:0000069	Abnormality of the ureter	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0000069	HP:0000069	Abnormality of the ureter	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000069	HP:0000069	Abnormality of the ureter	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0000069	Abnormality of the ureter	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000069	HP:0000069	Abnormality of the ureter	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000069	HP:0000069	Abnormality of the ureter	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000069	HP:0000069	Abnormality of the ureter	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000069	HP:0000069	Abnormality of the ureter	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0000069	HP:0000069	Abnormality of the ureter	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0000069	HP:0000069	Abnormality of the ureter	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000069	HP:0000069	Abnormality of the ureter	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000069	HP:0000069	Abnormality of the ureter	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	33
HP:0000069	HP:0000069	Abnormality of the ureter	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0000069	Abnormality of the ureter	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0000069	Abnormality of the ureter	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000069	HP:0000069	Abnormality of the ureter	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000069	HP:0000069	Abnormality of the ureter	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000069	HP:0000069	Abnormality of the ureter	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0000069	HP:0000069	Abnormality of the ureter	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000069	HP:0000069	Abnormality of the ureter	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0000069	HP:0000069	Abnormality of the ureter	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0000069	HP:0000069	Abnormality of the ureter	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000069	HP:0000069	Abnormality of the ureter	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000069	HP:0000069	Abnormality of the ureter	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000069	HP:0000069	Abnormality of the ureter	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000069	HP:0000069	Abnormality of the ureter	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0000069	HP:0000069	Abnormality of the ureter	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000069	HP:0000069	Abnormality of the ureter	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000069	HP:0000069	Abnormality of the ureter	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000069	HP:0000069	Abnormality of the ureter	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0000069	HP:0000069	Abnormality of the ureter	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0000069	HP:0000069	Abnormality of the ureter	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000069	HP:0000069	Abnormality of the ureter	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000069	HP:0000069	Abnormality of the ureter	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000069	HP:0000069	Abnormality of the ureter	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000069	HP:0000069	Abnormality of the ureter	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000069	HP:0000069	Abnormality of the ureter	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0000069	HP:0000069	Abnormality of the ureter	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000069	HP:0000069	Abnormality of the ureter	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000069	HP:0000069	Abnormality of the ureter	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000069	HP:0000069	Abnormality of the ureter	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000069	HP:0000069	Abnormality of the ureter	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000069	HP:0000069	Abnormality of the ureter	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000069	HP:0000069	Abnormality of the ureter	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000069	HP:0000069	Abnormality of the ureter	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000069	HP:0000069	Abnormality of the ureter	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0000069	HP:0000069	Abnormality of the ureter	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0000069	HP:0000069	Abnormality of the ureter	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000069	HP:0000069	Abnormality of the ureter	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0000069	HP:0000069	Abnormality of the ureter	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000069	HP:0000069	Abnormality of the ureter	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000069	HP:0000069	Abnormality of the ureter	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000069	HP:0000069	Abnormality of the ureter	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0000069	HP:0000069	Abnormality of the ureter	0	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2		70
HP:0000069	HP:0000069	Abnormality of the ureter	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0000069	HP:0000069	Abnormality of the ureter	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000069	HP:0000069	Abnormality of the ureter	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000069	HP:0000069	Abnormality of the ureter	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000069	HP:0000069	Abnormality of the ureter	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0000069	Abnormality of the ureter	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome		90
HP:0000069	HP:0000069	Abnormality of the ureter	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000069	HP:0000069	Abnormality of the ureter	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0000069	HP:0000069	Abnormality of the ureter	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0000069	HP:0000069	Abnormality of the ureter	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0000069	HP:0000069	Abnormality of the ureter	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000069	HP:0000069	Abnormality of the ureter	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000069	HP:0000069	Abnormality of the ureter	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000069	HP:0000069	Abnormality of the ureter	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000069	HP:0000069	Abnormality of the ureter	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	119
HP:0000069	HP:0000069	Abnormality of the ureter	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	2
HP:0000069	HP:0000069	Abnormality of the ureter	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000069	HP:0000069	Abnormality of the ureter	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000069	HP:0000069	Abnormality of the ureter	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000069	HP:0000069	Abnormality of the ureter	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000069	HP:0000069	Abnormality of the ureter	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000069	HP:0000069	Abnormality of the ureter	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000069	HP:0000069	Abnormality of the ureter	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000069	HP:0000069	Abnormality of the ureter	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0000069	HP:0000069	Abnormality of the ureter	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000069	HP:0000069	Abnormality of the ureter	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000069	HP:0000069	Abnormality of the ureter	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000069	HP:0000069	Abnormality of the ureter	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000069	HP:0000069	Abnormality of the ureter	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000069	HP:0000069	Abnormality of the ureter	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000069	HP:0000069	Abnormality of the ureter	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0000069	HP:0000069	Abnormality of the ureter	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0000069	HP:0000069	Abnormality of the ureter	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000069	HP:0000069	Abnormality of the ureter	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000069	HP:0000069	Abnormality of the ureter	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000069	HP:0000069	Abnormality of the ureter	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000069	HP:0000069	Abnormality of the ureter	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000069	HP:0000069	Abnormality of the ureter	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000069	HP:0000069	Abnormality of the ureter	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000069	HP:0000069	Abnormality of the ureter	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0000069	HP:0000069	Abnormality of the ureter	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000069	HP:0000069	Abnormality of the ureter	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000069	HP:0000069	Abnormality of the ureter	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000069	HP:0000069	Abnormality of the ureter	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0000069	Abnormality of the ureter	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0000069	HP:0000069	Abnormality of the ureter	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000069	HP:0000069	Abnormality of the ureter	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000069	HP:0000069	Abnormality of the ureter	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0000069	Abnormality of the ureter	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000069	HP:0000069	Abnormality of the ureter	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000069	HP:0000069	Abnormality of the ureter	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0000069	HP:0000069	Abnormality of the ureter	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000069	HP:0000069	Abnormality of the ureter	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000069	HP:0000069	Abnormality of the ureter	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0000069	HP:0000069	Abnormality of the ureter	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0000069	HP:0000069	Abnormality of the ureter	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0000069	HP:0000069	Abnormality of the ureter	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0000069	HP:0000069	Abnormality of the ureter	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0000069	HP:0000069	Abnormality of the ureter	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0000069	HP:0000069	Abnormality of the ureter	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000069	HP:0000069	Abnormality of the ureter	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000069	HP:0000069	Abnormality of the ureter	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000069	HP:0000069	Abnormality of the ureter	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000069	HP:0000069	Abnormality of the ureter	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000069	HP:0000069	Abnormality of the ureter	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0000069	HP:0000069	Abnormality of the ureter	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0000069	HP:0000069	Abnormality of the ureter	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000069	HP:0000069	Abnormality of the ureter	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000069	HP:0000069	Abnormality of the ureter	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000069	HP:0000069	Abnormality of the ureter	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0000069	HP:0000069	Abnormality of the ureter	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0000069	Abnormality of the ureter	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000069	HP:0000069	Abnormality of the ureter	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000069	HP:0000069	Abnormality of the ureter	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000069	HP:0000069	Abnormality of the ureter	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0000069	HP:0000069	Abnormality of the ureter	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:0000069	HP:0000069	Abnormality of the ureter	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0000069	HP:0000069	Abnormality of the ureter	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000069	HP:0000069	Abnormality of the ureter	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000069	HP:0000069	Abnormality of the ureter	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000069	HP:0000069	Abnormality of the ureter	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000069	HP:0000069	Abnormality of the ureter	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0000069	HP:0000069	Abnormality of the ureter	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000069	HP:0000069	Abnormality of the ureter	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000069	HP:0000069	Abnormality of the ureter	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000069	HP:0000069	Abnormality of the ureter	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000069	HP:0000069	Abnormality of the ureter	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000069	HP:0000069	Abnormality of the ureter	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000069	HP:0000069	Abnormality of the ureter	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0000069	Abnormality of the ureter	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000069	HP:0000069	Abnormality of the ureter	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000069	HP:0000069	Abnormality of the ureter	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	150
HP:0000069	HP:0000069	Abnormality of the ureter	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0000069	HP:0000069	Abnormality of the ureter	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000069	HP:0000069	Abnormality of the ureter	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000069	HP:0000069	Abnormality of the ureter	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000069	HP:0000069	Abnormality of the ureter	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000069	HP:0000069	Abnormality of the ureter	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0000069	HP:0000069	Abnormality of the ureter	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000069	HP:0000069	Abnormality of the ureter	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0000069	HP:0000069	Abnormality of the ureter	0	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000069	HP:0000069	Abnormality of the ureter	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000069	HP:0000069	Abnormality of the ureter	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000069	HP:0000069	Abnormality of the ureter	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000069	HP:0000069	Abnormality of the ureter	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000069	HP:0000069	Abnormality of the ureter	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000069	HP:0000069	Abnormality of the ureter	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0000069	HP:0000069	Abnormality of the ureter	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000069	HP:0000069	Abnormality of the ureter	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0000069	HP:0000069	Abnormality of the ureter	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0000069	HP:0000069	Abnormality of the ureter	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0000069	HP:0000069	Abnormality of the ureter	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0000069	HP:0000069	Abnormality of the ureter	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0000069	HP:0000069	Abnormality of the ureter	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000069	HP:0000069	Abnormality of the ureter	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0000069	HP:0000069	Abnormality of the ureter	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000069	HP:0000069	Abnormality of the ureter	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000069	HP:0000069	Abnormality of the ureter	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000069	HP:0000069	Abnormality of the ureter	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0000069	HP:0000069	Abnormality of the ureter	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000069	HP:0000069	Abnormality of the ureter	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000069	HP:0000069	Abnormality of the ureter	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000069	HP:0000069	Abnormality of the ureter	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0000069	HP:0000069	Abnormality of the ureter	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000069	HP:0000069	Abnormality of the ureter	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000069	HP:0000069	Abnormality of the ureter	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000069	HP:0000069	Abnormality of the ureter	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000069	HP:0000069	Abnormality of the ureter	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000069	HP:0000069	Abnormality of the ureter	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000069	HP:0000069	Abnormality of the ureter	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0000069	HP:0000069	Abnormality of the ureter	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000069	HP:0000069	Abnormality of the ureter	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000069	HP:0000069	Abnormality of the ureter	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000069	HP:0000069	Abnormality of the ureter	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0000069	HP:0000069	Abnormality of the ureter	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0000069	HP:0000069	Abnormality of the ureter	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0000069	HP:0000069	Abnormality of the ureter	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0000069	HP:0000069	Abnormality of the ureter	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000069	HP:0000069	Abnormality of the ureter	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000069	HP:0000069	Abnormality of the ureter	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000069	HP:0000069	Abnormality of the ureter	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000069	HP:0000069	Abnormality of the ureter	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000069	HP:0000069	Abnormality of the ureter	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0000069	HP:0000069	Abnormality of the ureter	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0000069	HP:0000069	Abnormality of the ureter	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	140
HP:0000069	HP:0000069	Abnormality of the ureter	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000069	HP:0000069	Abnormality of the ureter	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000069	HP:0000069	Abnormality of the ureter	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0000069	Abnormality of the ureter	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0000069	HP:0000069	Abnormality of the ureter	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000069	HP:0000069	Abnormality of the ureter	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000069	HP:0000069	Abnormality of the ureter	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0000069	HP:0000069	Abnormality of the ureter	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000069	HP:0000069	Abnormality of the ureter	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000069	HP:0000069	Abnormality of the ureter	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000069	HP:0000069	Abnormality of the ureter	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0000069	HP:0000069	Abnormality of the ureter	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0000069	HP:0000069	Abnormality of the ureter	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000069	HP:0000069	Abnormality of the ureter	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000069	HP:0000069	Abnormality of the ureter	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0100516	Neoplasm of the ureter	1	CL E G H
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		23
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0000069	HP:0025634	Abnormal ureter physiology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000069	HP:0025634	Abnormal ureter physiology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0000069	HP:0025633	Abnormal ureter morphology	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000069	HP:0025633	Abnormal ureter morphology	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0000069	HP:0025633	Abnormal ureter morphology	1	AXIN1 CL E G H	8312	903	OMIM:607864	CAUDAL DUPLICATION ANOMALY		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000069	HP:0025633	Abnormal ureter morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000069	HP:0025633	Abnormal ureter morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000069	HP:0025633	Abnormal ureter morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000069	HP:0025633	Abnormal ureter morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000069	HP:0025633	Abnormal ureter morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000069	HP:0025633	Abnormal ureter morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000069	HP:0025634	Abnormal ureter physiology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0000069	HP:0025633	Abnormal ureter morphology	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0000069	HP:0025633	Abnormal ureter morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000069	HP:0025634	Abnormal ureter physiology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000069	HP:0025634	Abnormal ureter physiology	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0000069	HP:0025633	Abnormal ureter morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000069	HP:0025634	Abnormal ureter physiology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0000069	HP:0025633	Abnormal ureter morphology	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0025633	Abnormal ureter morphology	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000069	HP:0025634	Abnormal ureter physiology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000069	HP:0025633	Abnormal ureter morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000069	HP:0025633	Abnormal ureter morphology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0000069	HP:0025633	Abnormal ureter morphology	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome		40
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000069	HP:0025633	Abnormal ureter morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0000069	HP:0025633	Abnormal ureter morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000069	HP:0025634	Abnormal ureter physiology	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000069	HP:0025633	Abnormal ureter morphology	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2		70
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0000069	HP:0025633	Abnormal ureter morphology	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome		90
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0000069	HP:0025633	Abnormal ureter morphology	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0000069	HP:0025633	Abnormal ureter morphology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000069	HP:0025634	Abnormal ureter physiology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000069	HP:0025633	Abnormal ureter morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000069	HP:0025634	Abnormal ureter physiology	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000069	HP:0025634	Abnormal ureter physiology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000069	HP:0025634	Abnormal ureter physiology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0000069	HP:0025633	Abnormal ureter morphology	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000069	HP:0025634	Abnormal ureter physiology	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000069	HP:0025634	Abnormal ureter physiology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		418
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome		326
HP:0000069	HP:0025633	Abnormal ureter morphology	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0000069	HP:0025634	Abnormal ureter physiology	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000069	HP:0025633	Abnormal ureter morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000069	HP:0025634	Abnormal ureter physiology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome		39
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0000069	HP:0025633	Abnormal ureter morphology	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:0000069	HP:0025634	Abnormal ureter physiology	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:0000069	HP:0025634	Abnormal ureter physiology	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0000069	HP:0025634	Abnormal ureter physiology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0000069	HP:0025634	Abnormal ureter physiology	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000069	HP:0025633	Abnormal ureter morphology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000069	HP:0025634	Abnormal ureter physiology	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome		9
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000069	HP:0025633	Abnormal ureter morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000069	HP:0025634	Abnormal ureter physiology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0000069	HP:0025633	Abnormal ureter morphology	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0000069	HP:0025634	Abnormal ureter physiology	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000069	HP:0025634	Abnormal ureter physiology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0000069	HP:0025634	Abnormal ureter physiology	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0000069	HP:0025634	Abnormal ureter physiology	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome		71
HP:0000069	HP:0025634	Abnormal ureter physiology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8		134
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0000069	HP:0025634	Abnormal ureter physiology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0000069	HP:0025633	Abnormal ureter morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000069	HP:0025633	Abnormal ureter morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000069	HP:0025634	Abnormal ureter physiology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000069	HP:0025633	Abnormal ureter morphology	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0000069	HP:0025634	Abnormal ureter physiology	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0000069	HP:0025634	Abnormal ureter physiology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000069	HP:0025634	Abnormal ureter physiology	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0000069	HP:0025633	Abnormal ureter morphology	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0000069	HP:0025633	Abnormal ureter morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000069	HP:0025634	Abnormal ureter physiology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000069	HP:0025634	Abnormal ureter physiology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0000069	HP:0025633	Abnormal ureter morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000069	HP:0025634	Abnormal ureter physiology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0034512	Transitional-cell carcinoma of the ureter	2	CL E G H
HP:0000069	HP:0008631	Ureteral dysgenesis	2	CL E G H
HP:0000069	HP:0025635	Ureteral polyp	2	CL E G H
HP:0000069	HP:0000072	Hydroureter	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0000069	HP:0000072	Hydroureter	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0000069	HP:0000072	Hydroureter	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040281 - Very frequent	23
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040281 - Very frequent	23
HP:0000069	HP:0000072	Hydroureter	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	23
HP:0000069	HP:0000072	Hydroureter	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0000069	HP:0000076	Vesicoureteral reflux	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000069	HP:0000076	Vesicoureteral reflux	2	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:0000069	HP:0032464	Ureteral hypoplasia	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0006000	Ureteral obstruction	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000069	HP:0000073	Ureteral duplication	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000069	HP:0034368	Urolithiasis	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0000069	HP:0000072	Hydroureter	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	75
HP:0000069	HP:0000072	Hydroureter	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000070	Ureterocele	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000069	HP:0006000	Ureteral obstruction	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000069	HP:0000072	Hydroureter	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional	67
HP:0000069	HP:0000073	Ureteral duplication	2	AXIN1 CL E G H	8312	903	OMIM:607864	CAUDAL DUPLICATION ANOMALY		3
HP:0000069	HP:0000073	Ureteral duplication	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000069	HP:0000073	Ureteral duplication	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000069	HP:0000073	Ureteral duplication	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0000069	HP:0000073	Ureteral duplication	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000069	HP:0000072	Hydroureter	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BICC1 CL E G H	80114	19351	OMIM:601331	Renal dysplasia, cystic, susceptibility to	HP:0040283 - Occasional	5
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040282 - Frequent	22
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0000069	HP:0000072	Hydroureter	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000069	HP:0000072	Hydroureter	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0000069	HP:0006000	Ureteral obstruction	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000069	HP:0000072	Hydroureter	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000069	HP:0000076	Vesicoureteral reflux	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000070	Ureterocele	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0000069	HP:0000073	Ureteral duplication	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0000069	HP:0006000	Ureteral obstruction	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0000069	HP:0000070	Ureterocele	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0000069	HP:0000073	Ureteral duplication	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0000069	HP:0012300	Ureteral agenesis	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000069	HP:0000072	Hydroureter	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000069	HP:0000072	Hydroureter	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000073	Ureteral duplication	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0000069	HP:0000076	Vesicoureteral reflux	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0000069	HP:0000073	Ureteral duplication	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000069	HP:0000076	Vesicoureteral reflux	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000069	HP:0000076	Vesicoureteral reflux	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000069	HP:0000073	Ureteral duplication	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000069	HP:0000076	Vesicoureteral reflux	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000069	HP:0000073	Ureteral duplication	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0000069	HP:0006000	Ureteral obstruction	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0000069	HP:0000072	Hydroureter	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000069	HP:0006000	Ureteral obstruction	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0006000	Ureteral obstruction	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0000070	Ureterocele	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000069	HP:0006000	Ureteral obstruction	2	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000069	HP:0000076	Vesicoureteral reflux	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000069	HP:0000072	Hydroureter	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000069	HP:0000072	Hydroureter	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000069	HP:0005999	Ureteral atresia	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0000069	HP:0000072	Hydroureter	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000069	HP:0000072	Hydroureter	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000069	HP:0000072	Hydroureter	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000069	HP:0000072	Hydroureter	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0000069	HP:0000072	Hydroureter	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0000069	HP:0006000	Ureteral obstruction	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0000069	HP:0000076	Vesicoureteral reflux	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000069	HP:0000072	Hydroureter	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000069	HP:0000072	Hydroureter	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000069	HP:0000072	Hydroureter	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000069	HP:0000072	Hydroureter	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000069	HP:0000072	Hydroureter	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000069	HP:0000072	Hydroureter	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000069	HP:0000072	Hydroureter	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000069	HP:0000072	Hydroureter	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000069	HP:0000072	Hydroureter	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000069	HP:0000072	Hydroureter	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000069	HP:0000072	Hydroureter	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0000069	HP:0000073	Ureteral duplication	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0000069	HP:0000073	Ureteral duplication	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000069	HP:0006000	Ureteral obstruction	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0000069	HP:0006000	Ureteral obstruction	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0000069	HP:0006000	Ureteral obstruction	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0000069	HP:0000072	Hydroureter	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000069	HP:0000076	Vesicoureteral reflux	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000069	HP:0000073	Ureteral duplication	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0000069	HP:0000073	Ureteral duplication	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000069	HP:0000073	Ureteral duplication	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0000069	HP:0000072	Hydroureter	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000072	Hydroureter	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000069	HP:0000070	Ureterocele	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0000069	HP:0006000	Ureteral obstruction	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000069	HP:0000072	Hydroureter	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000069	HP:0000073	Ureteral duplication	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000069	HP:0000073	Ureteral duplication	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000069	HP:0000072	Hydroureter	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	HP:0040284 - Very rare
HP:0000069	HP:0006000	Ureteral obstruction	2	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2	HP:0040282 - Frequent	70
HP:0000069	HP:0000070	Ureterocele	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000069	HP:0000070	Ureterocele	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000069	HP:0000076	Vesicoureteral reflux	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000069	HP:0006000	Ureteral obstruction	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0006000	Ureteral obstruction	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0000069	HP:0000070	Ureterocele	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0000069	HP:0006000	Ureteral obstruction	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000069	HP:0000076	Vesicoureteral reflux	2	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:0000069	HP:0000076	Vesicoureteral reflux	2	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:0000069	HP:0000076	Vesicoureteral reflux	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0000069	HP:0006000	Ureteral obstruction	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0000069	HP:0006000	Ureteral obstruction	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0000069	HP:0000072	Hydroureter	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000069	HP:0000072	Hydroureter	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000069	HP:0000076	Vesicoureteral reflux	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0000069	HP:0000073	Ureteral duplication	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000069	HP:0000076	Vesicoureteral reflux	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0000069	HP:0000070	Ureterocele	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000069	HP:0000070	Ureterocele	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0000069	HP:0000070	Ureterocele	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000069	HP:0000076	Vesicoureteral reflux	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000069	HP:0000076	Vesicoureteral reflux	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000069	HP:0000070	Ureterocele	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000069	HP:0000073	Ureteral duplication	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0000069	HP:0006000	Ureteral obstruction	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000069	HP:0006000	Ureteral obstruction	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0000069	HP:0032464	Ureteral hypoplasia	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000069	HP:0006000	Ureteral obstruction	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000069	HP:0006000	Ureteral obstruction	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000069	HP:0000076	Vesicoureteral reflux	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0000069	HP:0000072	Hydroureter	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000069	HP:0006000	Ureteral obstruction	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000069	HP:0000070	Ureterocele	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000069	HP:0000070	Ureterocele	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000069	HP:0000072	Hydroureter	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000069	HP:0006000	Ureteral obstruction	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000069	HP:0006000	Ureteral obstruction	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000069	HP:0000072	Hydroureter	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000069	HP:0000070	Ureterocele	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000069	HP:0000070	Ureterocele	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000073	Ureteral duplication	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0000069	HP:0000072	Hydroureter	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent
HP:0000069	HP:0000072	Hydroureter	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0000069	HP:0000072	Hydroureter	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional	8
HP:0000069	HP:0000076	Vesicoureteral reflux	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0000069	HP:0000076	Vesicoureteral reflux	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0000069	HP:0000076	Vesicoureteral reflux	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000069	HP:0006000	Ureteral obstruction	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000069	HP:0000070	Ureterocele	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000069	HP:0000072	Hydroureter	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000069	HP:0000072	Hydroureter	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000069	HP:0000076	Vesicoureteral reflux	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0000069	HP:0000072	Hydroureter	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0000069	HP:0000073	Ureteral duplication	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0000069	HP:0000076	Vesicoureteral reflux	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0000069	HP:0000072	Hydroureter	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	418
HP:0000069	HP:0000072	Hydroureter	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent	326
HP:0000069	HP:0000072	Hydroureter	2	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0000069	HP:0006000	Ureteral obstruction	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000069	HP:0000072	Hydroureter	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000069	HP:0000072	Hydroureter	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000069	HP:0005999	Ureteral atresia	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000069	HP:0000072	Hydroureter	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	HP:0040284 - Very rare	31
HP:0000069	HP:0000070	Ureterocele	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	HP:0040282 - Frequent	12
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	HP:0040283 - Occasional	494
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0000069	HP:0006000	Ureteral obstruction	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0000073	Ureteral duplication	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0005999	Ureteral atresia	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0000069	HP:0006000	Ureteral obstruction	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000069	HP:0000073	Ureteral duplication	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000069	HP:0000076	Vesicoureteral reflux	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0000069	HP:0000076	Vesicoureteral reflux	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000069	HP:0000073	Ureteral duplication	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent	39
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0000069	HP:0000076	Vesicoureteral reflux	2	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:0000069	HP:0000073	Ureteral duplication	2	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:0000069	HP:0000076	Vesicoureteral reflux	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0000069	HP:0000070	Ureterocele	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0000069	HP:0000072	Hydroureter	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional	46
HP:0000069	HP:0006000	Ureteral obstruction	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0000069	HP:0000072	Hydroureter	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional	37
HP:0000069	HP:0032464	Ureteral hypoplasia	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040284 - Very rare	37
HP:0000069	HP:0000073	Ureteral duplication	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0000069	HP:0000070	Ureterocele	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000069	HP:0000070	Ureterocele	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000069	HP:0000072	Hydroureter	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000069	HP:0000072	Hydroureter	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000069	HP:0006000	Ureteral obstruction	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0000069	HP:0000072	Hydroureter	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0000069	HP:0000070	Ureterocele	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000069	HP:0000070	Ureterocele	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0000069	HP:0000076	Vesicoureteral reflux	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000069	HP:0000076	Vesicoureteral reflux	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0000069	HP:0000073	Ureteral duplication	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0000069	HP:0000072	Hydroureter	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0000072	Hydroureter	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0000069	HP:0034368	Urolithiasis	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000069	HP:0006000	Ureteral obstruction	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0000069	HP:0000073	Ureteral duplication	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000069	HP:0006000	Ureteral obstruction	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000069	HP:0000076	Vesicoureteral reflux	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0000069	HP:0000072	Hydroureter	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0000069	HP:0000072	Hydroureter	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000069	HP:0000072	Hydroureter	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0000069	HP:0000073	Ureteral duplication	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000069	HP:0000072	Hydroureter	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0000069	HP:0000072	Hydroureter	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ROBO2 CL E G H	6092	10250	OMIM:610878	VESICOURETERAL REFLUX 2; VUR2		120
HP:0000069	HP:0000073	Ureteral duplication	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0000069	HP:0000073	Ureteral duplication	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000069	HP:0000076	Vesicoureteral reflux	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0000069	HP:0000070	Ureterocele	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0000069	HP:0000070	Ureterocele	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	304
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	16
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	237
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare	129
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000069	HP:0006000	Ureteral obstruction	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000069	HP:0000072	Hydroureter	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000069	HP:0000073	Ureteral duplication	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000069	HP:0006000	Ureteral obstruction	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0000069	HP:0006000	Ureteral obstruction	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000069	HP:0000070	Ureterocele	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0000069	HP:0006000	Ureteral obstruction	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	.	50
HP:0000069	HP:0006000	Ureteral obstruction	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0000069	HP:0034368	Urolithiasis	2	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0000069	HP:0000070	Ureterocele	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000069	HP:0006000	Ureteral obstruction	2	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000069	HP:0006000	Ureteral obstruction	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000069	HP:0000073	Ureteral duplication	2	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:0000069	HP:0000072	Hydroureter	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0000069	HP:0000072	Hydroureter	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000069	HP:0000073	Ureteral duplication	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000069	HP:0000072	Hydroureter	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0000069	HP:0000072	Hydroureter	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0000069	HP:0000076	Vesicoureteral reflux	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0000069	HP:0000073	Ureteral duplication	2	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:0000069	HP:0000076	Vesicoureteral reflux	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0000069	HP:0000076	Vesicoureteral reflux	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	HP:0040283 - Occasional	24
HP:0000069	HP:0000076	Vesicoureteral reflux	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0000069	HP:0000076	Vesicoureteral reflux	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000069	HP:0000076	Vesicoureteral reflux	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000069	HP:0000072	Hydroureter	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000069	HP:0006000	Ureteral obstruction	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000069	HP:0000073	Ureteral duplication	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000069	HP:0000073	Ureteral duplication	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0000069	HP:0000073	Ureteral duplication	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0000069	HP:0000073	Ureteral duplication	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0000069	HP:0000073	Ureteral duplication	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000069	HP:0000073	Ureteral duplication	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0000069	HP:0000073	Ureteral duplication	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000073	Ureteral duplication	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0000069	HP:0000072	Hydroureter	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000069	HP:0000070	Ureterocele	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000069	HP:0000070	Ureterocele	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0000069	HP:0000076	Vesicoureteral reflux	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000069	HP:0000073	Ureteral duplication	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0000069	HP:0000072	Hydroureter	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000069	HP:0000076	Vesicoureteral reflux	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000069	HP:0000073	Ureteral duplication	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000069	HP:0000076	Vesicoureteral reflux	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000069	HP:0000076	Vesicoureteral reflux	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000069	HP:0000076	Vesicoureteral reflux	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0000069	HP:0000072	Hydroureter	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0000069	HP:0000072	Hydroureter	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000069	HP:0006000	Ureteral obstruction	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000069	HP:0006000	Ureteral obstruction	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000069	HP:0000073	Ureteral duplication	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0000069	HP:0000073	Ureteral duplication	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0000069	HP:0006000	Ureteral obstruction	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0000076	Vesicoureteral reflux	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0033739	Secondary vesicoureteral reflux	3	CL E G H
HP:0000069	HP:4000035	Primary obstructive megaureter	3	CL E G H
HP:0000069	HP:0033738	Primary vesicoureteral reflux	3	CL E G H
HP:0000069	HP:0008705	Ureteral triplication	3	CL E G H
HP:0000069	HP:0030735	Ureterovesical junction obstruction	3	CL E G H
HP:0000069	HP:0012572	Ureter duplex	3	CL E G H
HP:0000069	HP:0012571	Ureter fissus	3	CL E G H
HP:0000069	HP:0000071	Ureteral stenosis	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0000069	HP:0000071	Ureteral stenosis	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0000069	HP:0000071	Ureteral stenosis	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040283 - Occasional	2
HP:0000069	HP:0030037	Bifid ureter	3	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0000069	HP:0030037	Bifid ureter	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000069	HP:0000071	Ureteral stenosis	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0000069	HP:0000071	Ureteral stenosis	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0000071	Ureteral stenosis	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000069	HP:0000071	Ureteral stenosis	3	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to		13
HP:0000069	HP:0000071	Ureteral stenosis	3	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000069	HP:0030037	Bifid ureter	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0000069	HP:0030037	Bifid ureter	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000069	HP:0000071	Ureteral stenosis	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000069	HP:0000071	Ureteral stenosis	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000069	HP:0000071	Ureteral stenosis	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000069	HP:0000071	Ureteral stenosis	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0000069	HP:0000071	Ureteral stenosis	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000069	HP:0000071	Ureteral stenosis	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0000069	HP:0000071	Ureteral stenosis	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0000069	HP:0000071	Ureteral stenosis	3	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000069	HP:0000071	Ureteral stenosis	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000069	HP:0000071	Ureteral stenosis	3	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000069	HP:0000071	Ureteral stenosis	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000069	HP:0000071	Ureteral stenosis	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000069	HP:0000071	Ureteral stenosis	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0000069	HP:0000071	Ureteral stenosis	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0000069	HP:0030037	Bifid ureter	3	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0000069	HP:0030037	Bifid ureter	3	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:0000069	HP:0000071	Ureteral stenosis	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000069	HP:0008676	Congenital megaureter	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000069	HP:0008676	Congenital megaureter	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0000069	HP:0000071	Ureteral stenosis	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000069	HP:0030037	Bifid ureter	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000069	HP:0000071	Ureteral stenosis	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000069	HP:0000071	Ureteral stenosis	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0000069	HP:0000071	Ureteral stenosis	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000069	HP:0000071	Ureteral stenosis	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0000069	HP:0000071	Ureteral stenosis	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000069	HP:0000071	Ureteral stenosis	3	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000069	HP:0000071	Ureteral stenosis	3	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000069	HP:0000071	Ureteral stenosis	3	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate		24
HP:0000069	HP:0000071	Ureteral stenosis	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000069	HP:0000071	Ureteral stenosis	3	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0000069	HP:0008676	Congenital megaureter	3	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000069	HP:0033733	Low-grade vesicoureteral reflux	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000069	HP:0000071	Ureteral stenosis	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000069	HP:0000071	Ureteral stenosis	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000069	HP:0000071	Ureteral stenosis	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0033734	High-grade vesicoureteral reflux	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0008714	Ureterovesical stenosis	4	CL E G H
HP:0000069	HP:0033735	Grade I vesicoureteral reflux	4	CL E G H
HP:0000069	HP:0033742	Intrarenal reflux	4	CL E G H
HP:0000069	HP:0033741	Grade IV vesicoureteral reflux	4	CL E G H
HP:0000069	HP:0033740	Grade V vesicoureteral reflux	4	CL E G H
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SLC26A1 CL E G H	10861	10993	OMIM:167030	Nephrolithiasis, calcium oxalate	.	24
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0000069	HP:0033736	Grade II vesicoureteral reflux	4	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000069	HP:0000074	Ureteropelvic junction obstruction	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000069	HP:0033737	Grade III vesicoureteral reflux	4	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC