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:0000010	HP:0000010	Recurrent urinary tract infections	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040283 - Occasional	260
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040281 - Very frequent	22
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	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:0000010	HP:0000010	Recurrent urinary tract infections	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	GRHPR CL E G H	9380	4570	ORPHA:93599	Primary hyperoxaluria type 2	HP:0040282 - Frequent	70
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040282 - Frequent	11
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040281 - Very frequent	9
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040282 - Frequent	11
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040281 - Very frequent	5
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2	.	5
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare	136
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MSN CL E G H	4478	7373	OMIM:300988	Immunodeficiency 50	.	2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLC3A1 CL E G H	6519	11025	OMIM:220100	CYSTINURIA	.	55
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional	41
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLC7A9 CL E G H	11136	11067	OMIM:220100	CYSTINURIA	.	58
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent	1
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TNXB CL E G H	7148	11976	OMIM:615963	Vesicoureteral reflux 8	.	134
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040282 - Frequent	140
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	389
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000010	HP:0000010	Recurrent urinary tract infections	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000010	HP:0012786	Recurrent cystitis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000010	HP:0012786	Recurrent cystitis	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0000010	HP:0012787	Recurrent pyelonephritis	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53