Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal renal morphology (HP:0012210)

Parent Node:
Abnormal localization of kidney (HP:0100542)

..Starting node
..Horseshoe kidney (HP:0000085)

Term ID:

Name:

Horseshoe kidney

Synonym:

Fused kidneys; Horseshoe kidney; Horseshoe kidneys

Definition:

A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.

Comments:

Reference:

HP:0000085

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic kidney (HP:0000086)

Nephroptosis (HP:0011126)

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:0000085	HP:0000085	Horseshoe kidney	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000085	HP:0000085	Horseshoe kidney	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000085	HP:0000085	Horseshoe kidney	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	HP:0040283 - Occasional	6
HP:0000085	HP:0000085	Horseshoe 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	HP:0040283 - Occasional	6
HP:0000085	HP:0000085	Horseshoe kidney	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0000085	HP:0000085	Horseshoe kidney	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0000085	HP:0000085	Horseshoe kidney	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0000085	HP:0000085	Horseshoe kidney	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000085	HP:0000085	Horseshoe kidney	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0000085	HP:0000085	Horseshoe kidney	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000085	HP:0000085	Horseshoe kidney	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0000085	HP:0000085	Horseshoe kidney	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000085	HP:0000085	Horseshoe kidney	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0000085	HP:0000085	Horseshoe kidney	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000085	HP:0000085	Horseshoe kidney	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0000085	HP:0000085	Horseshoe kidney	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000085	HP:0000085	Horseshoe kidney	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000085	HP:0000085	Horseshoe kidney	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000085	HP:0000085	Horseshoe kidney	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0000085	HP:0000085	Horseshoe kidney	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0000085	HP:0000085	Horseshoe kidney	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000085	HP:0000085	Horseshoe kidney	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	HP:0040283 - Occasional	9
HP:0000085	HP:0000085	Horseshoe kidney	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000085	HP:0000085	Horseshoe kidney	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000085	HP:0000085	Horseshoe kidney	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000085	HP:0000085	Horseshoe kidney	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	HP:0040284 - Very rare	2
HP:0000085	HP:0000085	Horseshoe kidney	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000085	HP:0000085	Horseshoe kidney	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0000085	HP:0000085	Horseshoe kidney	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040283 - Occasional	13
HP:0000085	HP:0000085	Horseshoe kidney	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000085	HP:0000085	Horseshoe kidney	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.	92
HP:0000085	HP:0000085	Horseshoe kidney	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0000085	HP:0000085	Horseshoe kidney	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000085	HP:0000085	Horseshoe kidney	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000085	HP:0000085	Horseshoe kidney	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000085	HP:0000085	Horseshoe kidney	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000085	HP:0000085	Horseshoe kidney	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000085	HP:0000085	Horseshoe kidney	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000085	HP:0000085	Horseshoe kidney	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0000085	HP:0000085	Horseshoe kidney	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0000085	HP:0000085	Horseshoe kidney	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional	175
HP:0000085	HP:0000085	Horseshoe kidney	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0000085	HP:0000085	Horseshoe kidney	0	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:0000085	HP:0000085	Horseshoe kidney	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0000085	HP:0000085	Horseshoe kidney	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000085	HP:0000085	Horseshoe kidney	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0000085	HP:0000085	Horseshoe kidney	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000085	HP:0000085	Horseshoe kidney	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0000085	HP:0000085	Horseshoe kidney	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0000085	HP:0000085	Horseshoe kidney	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000085	HP:0000085	Horseshoe kidney	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000085	HP:0000085	Horseshoe kidney	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0000085	HP:0000085	Horseshoe kidney	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000085	HP:0000085	Horseshoe kidney	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	HP:0040283 - Occasional	11
HP:0000085	HP:0000085	Horseshoe kidney	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000085	HP:0000085	Horseshoe kidney	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0000085	HP:0000085	Horseshoe kidney	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0000085	HP:0000085	Horseshoe kidney	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0000085	HP:0000085	Horseshoe kidney	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39
HP:0000085	HP:0000085	Horseshoe 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:0000085	HP:0000085	Horseshoe kidney	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000085	HP:0000085	Horseshoe kidney	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000085	HP:0000085	Horseshoe kidney	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0000085	HP:0000085	Horseshoe kidney	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000085	HP:0000085	Horseshoe kidney	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0000085	HP:0000085	Horseshoe kidney	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000085	HP:0000085	Horseshoe kidney	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000085	HP:0000085	Horseshoe kidney	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0000085	HP:0000085	Horseshoe kidney	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0000085	HP:0000085	Horseshoe kidney	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000085	HP:0000085	Horseshoe kidney	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000085	HP:0000085	Horseshoe kidney	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0000085	HP:0000085	Horseshoe kidney	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000085	HP:0000085	Horseshoe kidney	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000085	HP:0000085	Horseshoe kidney	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000085	HP:0000085	Horseshoe kidney	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000085	HP:0000085	Horseshoe kidney	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0000085	HP:0000085	Horseshoe kidney	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0000085	HP:0000085	Horseshoe kidney	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0000085	HP:0000085	Horseshoe kidney	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0000085	HP:0000085	Horseshoe kidney	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0000085	HP:0000085	Horseshoe kidney	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000085	HP:0000085	Horseshoe kidney	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000085	HP:0000085	Horseshoe kidney	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000085	HP:0000085	Horseshoe kidney	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0000085	HP:0000085	Horseshoe kidney	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0000085	HP:0000085	Horseshoe kidney	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000085	HP:0000085	Horseshoe kidney	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0000085	HP:0000085	Horseshoe kidney	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0000085	HP:0000085	Horseshoe kidney	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0000085	HP:0000085	Horseshoe kidney	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000085	HP:0000085	Horseshoe kidney	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0000085	HP:0000085	Horseshoe kidney	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0000085	HP:0000085	Horseshoe kidney	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000085	HP:0000085	Horseshoe kidney	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000085	HP:0000085	Horseshoe kidney	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000085	HP:0000085	Horseshoe kidney	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000085	HP:0000085	Horseshoe kidney	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040283 - Occasional	4
HP:0000085	HP:0000085	Horseshoe kidney	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0000085	HP:0000085	Horseshoe kidney	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000085	HP:0000085	Horseshoe kidney	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39

Genes (109) :ADA2 ADAMTS3 AFF3 AFF4 ARID1A ARID1B ARID2 BICRA BMPER CAPN15 CC2D2A CCBE1 CCNQ CD96 CFAP418 CHD7 CHST14 CHUK COLEC10 COLEC11 CWC27 DDB1 DDX59 DKC1 DPF2 DSE DSTYK DYNC2LI1 ESCO2 EXTL3 FANCA FANCC FANCD2 FANCE FANCI FAT4 FGFR2 GATA1 GRB10 GREB1L HMGA2 HNF1B HNRNPH1 HNRNPU HRAS KAT5 KDM6A KRAS LEMD3 MAP3K7 MNX1 MRPS34 MYCN NRAS PAX2 PBX1 POR PORCN PUF60 RARB RBM10 RBM8A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL4 SC5D SEMA3E SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMOC1 SNRPB SON SOX11 SOX4 SRY SSR4 STAG1 STRA6 TCTN3 THOC6 TRIP13 TSR2 UBA2 UBE2A WNT4 WT1 ZIC3

Diseases (85) :ORPHA:124 ORPHA:2136 OMIM:619297 OMIM:616368 ORPHA:444077 ORPHA:1465 OMIM:619325 OMIM:608022 OMIM:619318 OMIM:612284 OMIM:235510 ORPHA:140952 ORPHA:1308 OMIM:617406 ORPHA:138 OMIM:214800 ORPHA:2953 OMIM:613630 OMIM:248340 OMIM:265050 ORPHA:166035 OMIM:250410 OMIM:619426 OMIM:174300 OMIM:305000 ORPHA:101003 OMIM:617088 OMIM:216100 ORPHA:2319 OMIM:268300 ORPHA:508533 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:609053 ORPHA:93260 ORPHA:96182 OMIM:617805 ORPHA:94063 ORPHA:93111 OMIM:620083 ORPHA:238769 OMIM:163200 OMIM:619103 OMIM:300867 OMIM:157800 OMIM:176450 OMIM:617664 ORPHA:391641 OMIM:120330 OMIM:617641 OMIM:201750 OMIM:305600 ORPHA:2092 ORPHA:508498 ORPHA:2470 OMIM:311900 ORPHA:2886 OMIM:274000 ORPHA:3320 OMIM:612562 ORPHA:959 OMIM:607323 OMIM:607330 ORPHA:46059 OMIM:613951 ORPHA:1106 OMIM:117650 ORPHA:500150 OMIM:617140 ORPHA:1772 ORPHA:370927 ORPHA:502434 OMIM:601186 OMIM:614815 OMIM:613680 ORPHA:363444 OMIM:617598 OMIM:619959 OMIM:300860 ORPHA:3109 ORPHA:3097 OMIM:608978 OMIM:306955

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

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