Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | | |