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:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor		3179
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor		88
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	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:0010944	HP:0010944	Abnormal renal pelvis morphology	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:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010944	HP:0010944	Abnormal renal pelvis morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1		23
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor		3179
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve		22
HP:0010944	HP:0010945	Fetal pyelectasis	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional	22
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0010944	HP:0010945	Fetal pyelectasis	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome		114
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010944	HP:0010945	Fetal pyelectasis	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor		88
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0010944	HP:0010945	Fetal pyelectasis	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		12
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010944	HP:0005580	Duplication of renal pelvis	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010944	HP:0005580	Duplication of renal pelvis	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	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:0010944	HP:0010946	Dilatation of the renal pelvis	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:0010944	HP:0010946	Dilatation of the renal pelvis	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association		25
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome		9
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010944	HP:0010945	Fetal pyelectasis	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010944	HP:0010945	Fetal pyelectasis	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0010944	HP:0005580	Duplication of renal pelvis	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome		69
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1		35
HP:0010944	HP:0010945	Fetal pyelectasis	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010944	HP:0010945	Fetal pyelectasis	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0010944	HP:0010945	Fetal pyelectasis	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome		1129
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome		445
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0010944	HP:0005580	Duplication of renal pelvis	1	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:0010944	HP:0010946	Dilatation of the renal pelvis	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3		3
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010944	HP:0010945	Fetal pyelectasis	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome		32
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I		79
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0010944	HP:0010945	Fetal pyelectasis	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0010944	HP:0005580	Duplication of renal pelvis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010944	HP:0010946	Dilatation of the renal pelvis	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0010944	HP:0000126	Hydronephrosis	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0010944	HP:0000126	Hydronephrosis	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0010944	HP:0000126	Hydronephrosis	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0010944	HP:0000126	Hydronephrosis	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0010944	HP:0000126	Hydronephrosis	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010944	HP:0000126	Hydronephrosis	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	3179
HP:0010944	HP:0000126	Hydronephrosis	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0010944	HP:0000126	Hydronephrosis	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010944	HP:0000126	Hydronephrosis	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0010944	HP:0000126	Hydronephrosis	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0010944	HP:0000126	Hydronephrosis	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0010944	HP:0000126	Hydronephrosis	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare	16
HP:0010944	HP:0000126	Hydronephrosis	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0010944	HP:0000126	Hydronephrosis	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0010944	HP:0000126	Hydronephrosis	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0010944	HP:0000126	Hydronephrosis	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0010944	HP:0000126	Hydronephrosis	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0010944	HP:0000126	Hydronephrosis	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0010944	HP:0000126	Hydronephrosis	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010944	HP:0000126	Hydronephrosis	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0010944	HP:0000126	Hydronephrosis	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0010944	HP:0000126	Hydronephrosis	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0010944	HP:0000126	Hydronephrosis	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040282 - Frequent	22
HP:0010944	HP:0000126	Hydronephrosis	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0010944	HP:0000126	Hydronephrosis	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0010944	HP:0000126	Hydronephrosis	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0010944	HP:0000126	Hydronephrosis	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0010944	HP:0000126	Hydronephrosis	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0010944	HP:0000126	Hydronephrosis	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0010944	HP:0000126	Hydronephrosis	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010944	HP:0000126	Hydronephrosis	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0010944	HP:0000126	Hydronephrosis	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0010944	HP:0000126	Hydronephrosis	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0010944	HP:0000126	Hydronephrosis	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0010944	HP:0000126	Hydronephrosis	2	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0010944	HP:0000126	Hydronephrosis	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0010944	HP:0000126	Hydronephrosis	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0010944	HP:0000126	Hydronephrosis	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010944	HP:0000126	Hydronephrosis	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010944	HP:0000126	Hydronephrosis	2	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0010944	HP:0000126	Hydronephrosis	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0010944	HP:0000126	Hydronephrosis	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0010944	HP:0000126	Hydronephrosis	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0010944	HP:0000126	Hydronephrosis	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0010944	HP:0000126	Hydronephrosis	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0010944	HP:0000126	Hydronephrosis	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0010944	HP:0000126	Hydronephrosis	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010944	HP:0000126	Hydronephrosis	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010944	HP:0000126	Hydronephrosis	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0010944	HP:0000126	Hydronephrosis	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0010944	HP:0000126	Hydronephrosis	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0010944	HP:0000126	Hydronephrosis	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	88
HP:0010944	HP:0000126	Hydronephrosis	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0010944	HP:0000126	Hydronephrosis	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0010944	HP:0000126	Hydronephrosis	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010944	HP:0000126	Hydronephrosis	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0010944	HP:0000126	Hydronephrosis	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010944	HP:0000126	Hydronephrosis	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0010944	HP:0000126	Hydronephrosis	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0010944	HP:0000126	Hydronephrosis	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0010944	HP:0000126	Hydronephrosis	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010944	HP:0000126	Hydronephrosis	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010944	HP:0000126	Hydronephrosis	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0010944	HP:0000126	Hydronephrosis	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0010944	HP:0000126	Hydronephrosis	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0010944	HP:0000126	Hydronephrosis	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0010944	HP:0000126	Hydronephrosis	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010944	HP:0000126	Hydronephrosis	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0010944	HP:0000126	Hydronephrosis	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0010944	HP:0000126	Hydronephrosis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0010944	HP:0000126	Hydronephrosis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0010944	HP:0000126	Hydronephrosis	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	135
HP:0010944	HP:0000126	Hydronephrosis	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0010944	HP:0000126	Hydronephrosis	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0010944	HP:0000126	Hydronephrosis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0010944	HP:0000126	Hydronephrosis	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0010944	HP:0000126	Hydronephrosis	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0010944	HP:0000126	Hydronephrosis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0010944	HP:0000126	Hydronephrosis	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0010944	HP:0000126	Hydronephrosis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0010944	HP:0000126	Hydronephrosis	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	HP:0040283 - Occasional	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0010944	HP:0000126	Hydronephrosis	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010944	HP:0000126	Hydronephrosis	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010944	HP:0000126	Hydronephrosis	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010944	HP:0000126	Hydronephrosis	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0010944	HP:0000126	Hydronephrosis	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	HP:0040283 - Occasional	37
HP:0010944	HP:0000126	Hydronephrosis	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0010944	HP:0000126	Hydronephrosis	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0010944	HP:0000126	Hydronephrosis	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0010944	HP:0000126	Hydronephrosis	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0010944	HP:0000126	Hydronephrosis	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0010944	HP:0000126	Hydronephrosis	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	HP:0040283 - Occasional	12
HP:0010944	HP:0000126	Hydronephrosis	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010944	HP:0000126	Hydronephrosis	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010944	HP:0000126	Hydronephrosis	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010944	HP:0000126	Hydronephrosis	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010944	HP:0000126	Hydronephrosis	2	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	HP:0040284 - Very rare
HP:0010944	HP:0000126	Hydronephrosis	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0010944	HP:0000126	Hydronephrosis	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0010944	HP:0000126	Hydronephrosis	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0010944	HP:0000126	Hydronephrosis	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:0010944	HP:0000126	Hydronephrosis	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:0010944	HP:0000126	Hydronephrosis	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0010944	HP:0000126	Hydronephrosis	2	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	9
HP:0010944	HP:0000126	Hydronephrosis	2	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0010944	HP:0000126	Hydronephrosis	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0010944	HP:0000126	Hydronephrosis	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010944	HP:0000126	Hydronephrosis	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0010944	HP:0000126	Hydronephrosis	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0010944	HP:0000126	Hydronephrosis	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010944	HP:0000126	Hydronephrosis	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0010944	HP:0000126	Hydronephrosis	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0010944	HP:0000126	Hydronephrosis	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0010944	HP:0000126	Hydronephrosis	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010944	HP:0000126	Hydronephrosis	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0010944	HP:0000126	Hydronephrosis	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010944	HP:0000126	Hydronephrosis	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0010944	HP:0000126	Hydronephrosis	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0010944	HP:0000126	Hydronephrosis	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0010944	HP:0000126	Hydronephrosis	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0010944	HP:0000126	Hydronephrosis	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0010944	HP:0000126	Hydronephrosis	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0010944	HP:0000126	Hydronephrosis	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0010944	HP:0000126	Hydronephrosis	2	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0010944	HP:0000126	Hydronephrosis	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0010944	HP:0000126	Hydronephrosis	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0010944	HP:0000126	Hydronephrosis	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0010944	HP:0000126	Hydronephrosis	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0010944	HP:0000126	Hydronephrosis	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0010944	HP:0000126	Hydronephrosis	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0010944	HP:0000126	Hydronephrosis	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0010944	HP:0000126	Hydronephrosis	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0010944	HP:0000126	Hydronephrosis	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0010944	HP:0000126	Hydronephrosis	2	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040282 - Frequent	5
HP:0010944	HP:0000126	Hydronephrosis	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0010944	HP:0000126	Hydronephrosis	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0010944	HP:0000126	Hydronephrosis	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0010944	HP:0000126	Hydronephrosis	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0010944	HP:0000126	Hydronephrosis	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0010944	HP:0000126	Hydronephrosis	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0010944	HP:0000126	Hydronephrosis	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0010944	HP:0000126	Hydronephrosis	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010944	HP:0000126	Hydronephrosis	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010944	HP:0000126	Hydronephrosis	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010944	HP:0000126	Hydronephrosis	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010944	HP:0000126	Hydronephrosis	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0010944	HP:0000126	Hydronephrosis	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010944	HP:0000126	Hydronephrosis	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0010944	HP:0000126	Hydronephrosis	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0010944	HP:0000126	Hydronephrosis	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0010944	HP:0000126	Hydronephrosis	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0010944	HP:0000126	Hydronephrosis	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0010944	HP:0000126	Hydronephrosis	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0010944	HP:0000126	Hydronephrosis	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0010944	HP:0000126	Hydronephrosis	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0010944	HP:0000126	Hydronephrosis	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	HP:0040284 - Very rare	31
HP:0010944	HP:0000126	Hydronephrosis	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0010944	HP:0000126	Hydronephrosis	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0010944	HP:0000126	Hydronephrosis	2	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0010944	HP:0000126	Hydronephrosis	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0010944	HP:0000126	Hydronephrosis	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0010944	HP:0000126	Hydronephrosis	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0010944	HP:0000126	Hydronephrosis	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0010944	HP:0000126	Hydronephrosis	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0010944	HP:0000126	Hydronephrosis	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010944	HP:0000126	Hydronephrosis	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0010944	HP:0000126	Hydronephrosis	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0010944	HP:0000126	Hydronephrosis	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0010944	HP:0000126	Hydronephrosis	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0010944	HP:0000126	Hydronephrosis	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0010944	HP:0000126	Hydronephrosis	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0010944	HP:0000126	Hydronephrosis	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0010944	HP:0000126	Hydronephrosis	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0010944	HP:0000126	Hydronephrosis	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0010944	HP:0000126	Hydronephrosis	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0010944	HP:0000126	Hydronephrosis	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0010944	HP:0000126	Hydronephrosis	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0010944	HP:0000126	Hydronephrosis	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0010944	HP:0000126	Hydronephrosis	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0010944	HP:0000126	Hydronephrosis	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0010944	HP:0000126	Hydronephrosis	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0010944	HP:0000126	Hydronephrosis	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0010944	HP:0000126	Hydronephrosis	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0010944	HP:0000126	Hydronephrosis	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0010944	HP:0011129	Bilateral fetal pyelectasis	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010944	HP:0000126	Hydronephrosis	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0010944	HP:0000126	Hydronephrosis	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0010944	HP:0000126	Hydronephrosis	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0010944	HP:0000126	Hydronephrosis	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0010944	HP:0000126	Hydronephrosis	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0010944	HP:0000126	Hydronephrosis	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0010944	HP:0000126	Hydronephrosis	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0010944	HP:0000126	Hydronephrosis	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0010944	HP:0000126	Hydronephrosis	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0010944	HP:0000126	Hydronephrosis	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0010944	HP:0000126	Hydronephrosis	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0010944	HP:0000126	Hydronephrosis	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0010944	HP:0000126	Hydronephrosis	2	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0010944	HP:0000126	Hydronephrosis	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0010944	HP:0000126	Hydronephrosis	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010944	HP:0000126	Hydronephrosis	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0010944	HP:0000126	Hydronephrosis	2	PPP3CA CL E G H	5530	9314	OMIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	.	2
HP:0010944	HP:0000126	Hydronephrosis	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0010944	HP:0000126	Hydronephrosis	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0010944	HP:0000126	Hydronephrosis	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	85
HP:0010944	HP:0000126	Hydronephrosis	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010944	HP:0000126	Hydronephrosis	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	90
HP:0010944	HP:0000126	Hydronephrosis	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	135
HP:0010944	HP:0000126	Hydronephrosis	2	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.	391
HP:0010944	HP:0000126	Hydronephrosis	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0010944	HP:0000126	Hydronephrosis	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0010944	HP:0000126	Hydronephrosis	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0010944	HP:0000126	Hydronephrosis	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0010944	HP:0000126	Hydronephrosis	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0010944	HP:0000126	Hydronephrosis	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0010944	HP:0000126	Hydronephrosis	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0010944	HP:0000126	Hydronephrosis	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0010944	HP:0000126	Hydronephrosis	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0010944	HP:0000126	Hydronephrosis	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0010944	HP:0000126	Hydronephrosis	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010944	HP:0000126	Hydronephrosis	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0010944	HP:0000126	Hydronephrosis	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0010944	HP:0000126	Hydronephrosis	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53
HP:0010944	HP:0000126	Hydronephrosis	2	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0010944	HP:0000126	Hydronephrosis	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	50
HP:0010944	HP:0000126	Hydronephrosis	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional	10
HP:0010944	HP:0000126	Hydronephrosis	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0010944	HP:0000126	Hydronephrosis	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010944	HP:0000126	Hydronephrosis	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.	3
HP:0010944	HP:0000126	Hydronephrosis	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040283 - Occasional	109
HP:0010944	HP:0000126	Hydronephrosis	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0010944	HP:0000126	Hydronephrosis	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040284 - Very rare	66
HP:0010944	HP:0000126	Hydronephrosis	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0010944	HP:0000126	Hydronephrosis	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional	100
HP:0010944	HP:0000126	Hydronephrosis	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010944	HP:0000126	Hydronephrosis	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010944	HP:0000126	Hydronephrosis	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0010944	HP:0000126	Hydronephrosis	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0010944	HP:0000126	Hydronephrosis	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010944	HP:0000126	Hydronephrosis	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	15
HP:0010944	HP:0000126	Hydronephrosis	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0010944	HP:0000126	Hydronephrosis	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0010944	HP:0000126	Hydronephrosis	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0010944	HP:0000126	Hydronephrosis	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0010944	HP:0000126	Hydronephrosis	2	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5
HP:0010944	HP:0000126	Hydronephrosis	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12
HP:0010944	HP:0000126	Hydronephrosis	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0010944	HP:0000126	Hydronephrosis	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010944	HP:0000126	Hydronephrosis	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0010944	HP:0000126	Hydronephrosis	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0010944	HP:0000126	Hydronephrosis	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010944	HP:0000126	Hydronephrosis	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0010944	HP:0000126	Hydronephrosis	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0010944	HP:0000126	Hydronephrosis	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0010944	HP:0000126	Hydronephrosis	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0010944	HP:0000126	Hydronephrosis	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0010944	HP:0000126	Hydronephrosis	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0010944	HP:0000126	Hydronephrosis	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0010944	HP:0000126	Hydronephrosis	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0010944	HP:0000126	Hydronephrosis	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0010944	HP:0000126	Hydronephrosis	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010944	HP:0000126	Hydronephrosis	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0010944	HP:0000126	Hydronephrosis	2	XDH CL E G H	7498	12805	OMIM:278300	Xanthinuria, type I	.	79
HP:0010944	HP:0000126	Hydronephrosis	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0010944	HP:0000126	Hydronephrosis	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0010944	HP:0000126	Hydronephrosis	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0010944	HP:0000126	Hydronephrosis	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0010944	HP:0000126	Hydronephrosis	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0010944	HP:0000126	Hydronephrosis	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC