Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 3179 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615807 | Seckel syndrome 8 | | | | 41 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | | | | 92 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | | | | 92 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | | | | 175 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | | | | 90 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | | | | 113 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | | | | 4 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | | | | 196 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 68 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 124 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | | | | 17 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | | | | 102 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | | | | 100 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | | | | 12 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | | | | 71 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | | | | 4 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0100542 | HP:0100542 | Abnormal localization of kidney | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0100542 | HP:0011126 | Nephroptosis | 1 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 3179 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CAPN15 CL E G H | 6650 | 11182 | OMIM:619318 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | HP:0040283 - Occasional | | | 9 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | HP:0040284 - Very rare | | | 2 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DNA2 CL E G H | 1763 | 2939 | OMIM:615807 | Seckel syndrome 8 | . | | | 41 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040283 - Occasional | | | 13 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | . | | | 92 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040283 - Occasional | | | 175 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040284 - Very rare | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | . | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | HNF1B CL E G H | 6928 | 11630 | ORPHA:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | HP:0040283 - Occasional | | | 90 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040282 - Frequent | | | 25 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | HP:0040283 - Occasional | | | 4 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 124 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | . | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | | | | 3 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | HP:0040283 - Occasional | | | 68 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | . | | | 10 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | HP:0040283 - Occasional | | | 20 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | HP:0040283 - Occasional | | | 274 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040283 - Occasional | | | 12 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | . | | | 31 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 111 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0100542 | HP:0000085 | Horseshoe kidney | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0100542 | HP:0000086 | Ectopic kidney | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | | | | 1 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | . | | | 2 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | HP:0040283 - Occasional | | | 274 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0100542 | HP:0004736 | Crossed fused renal ectopia | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0100542 | HP:0000125 | Pelvic kidney | 2 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0100542 | HP:0034235 | Superior crossed-fused renal ectopia | 3 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0034234 | L-shaped kidney | 3 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0034233 | Disc kidney | 3 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0034232 | Unilateral lump kidney | 3 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0034231 | Sigmoid kidney | 3 | CL E G H | | | | | | | | | | |
HP:0100542 | HP:0034230 | Inferior crossed fused renal ectopia | 3 | CL E G H | | | | | | | | | | |