Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP: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	OMIM:227650	Fanconi anemia		340
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	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	ORPHA:2886	TARP syndrome		16
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	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
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	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	ORPHA:3097	Meacham syndrome		177
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	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:0000086	Ectopic kidney	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0100542	HP:0000085	Horseshoe 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:0000086	Ectopic kidney	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
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	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: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:959	Acro-renal-ocular syndrome		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: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
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