Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal renal morphology (HP:0012210)

Parent Node:
Abnormal renal pelvis morphology (HP:0010944)

..Starting node
..Dilatation of the renal pelvis (HP:0010946)

Term ID:

10946

Name:

Dilatation of the renal pelvis

Synonym:

Definition:

The presence of dilatation of the renal pelvis.

Comments:

Reference:

HP:0010946

Genes and Diseases:

Child Nodes:

........

Hydronephrosis (HP:0000126)

........

Fetal pyelectasis (HP:0010945)

................... HP:0011129 Bilateral fetal pyelectasis

Sister Nodes:

Duplication of renal pelvis (HP:0005580)

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

Genes (232) :ACTB ACTG1 ACTG2 ALG9 APC APC2 ARID1B ARL3 ARNT2 ARPC4 ATN1 ATP6V1B2 ATP7A ATRX B3GALT6 B3GLCT B4GAT1 BAP1 BCOR BNC2 BRAF BRF1 CA2 CAMK2A CASZ1 CCBE1 CCDC22 CD81 CDC42 CDKN1C CENPF CHD7 CHRM3 CHRNA3 CHST14 COG1 COG7 COL18A1 CPT2 CREBBP CRTAP CTLA4 CTNNB1 DDB1 DDX6 DHCR7 DLK1 DSE DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBP EN1 EP300 ERBB3 ERCC6 ERCC8 EYA1 FAM20C FANCB FGF10 FGFR1 FGFR2 FGFR3 FLI1 FLNA FOCAD FOXF1 G6PC3 GABRD GATA3 GEMIN4 GLI3 GNB1 GPC3 GPC4 GREB1L GRIA3 HDAC4 HLA-DPA1 HLA-DPB1 HNRNPK HOXD13 HPSE2 HSPG2 HYLS1 IARS1 IFT80 IPO8 ITGA6 ITGB4 KANSL1 KAT6A KAT6B KCNAB2 KDM6A KIAA0753 KMT2D KRAS LAMA3 LAMB3 LAMC2 LIG4 LMNB1 LMOD1 LRIG2 LTBP4 LUZP1 MAP2K1 MAP2K2 MAP3K7 MASP1 MBTPS2 MED12 MED25 MEG3 MIA3 MID1 MKKS MMP23B MYCN MYMK MYMX MYOD1 NAA10 NBN NCAPG2 NDUFAF3 NF1 NFIA NRIP1 NSD1 NSDHL NSUN2 NXN OFD1 OTUD5 PAX7 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM1 PI4KA PIEZO2 PIGL PIGN PIGO PIGV PIGW PIGY PLD1 PLEC POLE POLR3A POR PORCN PPP3CA PRDM16 PRKCZ PRTN3 PTPN22 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD51C RBM10 RBM8A RECQL4 RERE RNU4ATAC ROR2 RORA RTL1 SALL4 SCARF2 SEMA3E SETBP1 SETD2 SHANK3 SHH SIX1 SIX5 SKI SOS1 SOX17 SOX9 SPART SPEN SPINK5 SRCAP STRA6 TAPT1 TASP1 TBC1D20 TBC1D24 TBX1 TBX15 TBX18 TFAP2A TOGARAM1 TP63 TRRAP TTC26 UBE4B UBR1 USP9X WASHC5 WDR35 WFS1 WLS WNT5A XDH YY1 ZEB2 ZIC3 ZMYM2

Diseases (211) :ORPHA:2995 OMIM:619431 OMIM:155310 ORPHA:79328 ORPHA:873 ORPHA:821 OMIM:135900 OMIM:618161 OMIM:615926 OMIM:620141 OMIM:618494 ORPHA:79500 OMIM:304150 ORPHA:847 OMIM:301040 OMIM:609465 ORPHA:709 OMIM:261540 OMIM:615287 OMIM:619762 ORPHA:568 ORPHA:93110 ORPHA:1340 OMIM:115150 ORPHA:444072 ORPHA:2785 OMIM:617798 ORPHA:1606 OMIM:235510 ORPHA:7 OMIM:613496 ORPHA:487796 OMIM:616737 ORPHA:85173 OMIM:243605 OMIM:214800 ORPHA:138 OMIM:100100 OMIM:191800 OMIM:601776 ORPHA:2953 OMIM:611209 OMIM:608779 OMIM:267750 OMIM:608836 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:610682 ORPHA:900 OMIM:619426 OMIM:618653 OMIM:270400 ORPHA:818 ORPHA:254528 OMIM:180700 ORPHA:93271 ORPHA:268261 ORPHA:464311 OMIM:302960 ORPHA:35173 OMIM:619218 ORPHA:353284 OMIM:607598 ORPHA:90324 ORPHA:107 OMIM:259775 OMIM:314390 ORPHA:2363 OMIM:613001 OMIM:101200 ORPHA:93260 ORPHA:2308 OMIM:305620 ORPHA:1826 OMIM:300048 OMIM:309350 ORPHA:2484 ORPHA:90652 OMIM:304120 OMIM:619991 OMIM:265380 ORPHA:210122 OMIM:612541 ORPHA:2237 OMIM:617913 OMIM:146510 ORPHA:488613 OMIM:616973 ORPHA:373 OMIM:312870 OMIM:617805 ORPHA:364028 OMIM:619797 ORPHA:352665 ORPHA:453504 ORPHA:887 ORPHA:2704 OMIM:236730 OMIM:236680 ORPHA:541423 OMIM:617093 OMIM:619472 ORPHA:79403 ORPHA:158684 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 ORPHA:457193 OMIM:606170 ORPHA:85201 ORPHA:2322 OMIM:147920 OMIM:617127 ORPHA:79404 ORPHA:235 OMIM:619179 OMIM:619362 OMIM:615112 OMIM:613177 OMIM:257920 ORPHA:2273 OMIM:301068 ORPHA:464738 OMIM:616449 OMIM:619269 ORPHA:2745 OMIM:236700 ORPHA:2473 ORPHA:391641 ORPHA:1358 OMIM:618975 OMIM:251260 OMIM:618460 OMIM:618240 ORPHA:363700 OMIM:613735 OMIM:618270 OMIM:308050 ORPHA:1507 ORPHA:2750 OMIM:301056 OMIM:618578 OMIM:214100 ORPHA:912 ORPHA:247262 OMIM:614921 OMIM:619708 ORPHA:2461 ORPHA:3474 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:212093 ORPHA:3455 ORPHA:95699 ORPHA:2092 OMIM:305600 OMIM:618265 ORPHA:2510 OMIM:201000 OMIM:613390 OMIM:311900 ORPHA:2886 OMIM:274000 ORPHA:1225 ORPHA:2636 OMIM:268310 OMIM:618060 OMIM:607323 OMIM:600920 OMIM:269150 ORPHA:798 ORPHA:48652 OMIM:142945 OMIM:610733 OMIM:613674 ORPHA:140 OMIM:114290 ORPHA:101000 ORPHA:634 ORPHA:2044 OMIM:136140 OMIM:601186 OMIM:616897 OMIM:618950 ORPHA:1727 OMIM:188400 OMIM:260660 OMIM:143400 ORPHA:1297 OMIM:619185 OMIM:604292 ORPHA:1896 OMIM:618454 OMIM:619534 ORPHA:2315 OMIM:243800 OMIM:300968 ORPHA:480880 OMIM:220210 OMIM:222300 OMIM:619648 OMIM:278300 OMIM:617557 ORPHA:506358 ORPHA:261552 ORPHA:261537 OMIM:619522

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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