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
..Ectopic kidney (HP:0000086)

Term ID:

Name:

Ectopic kidney

Synonym:

Abnormal kidney location; Displaced kidney; Ectopic kidneys; Renal ectopia

Definition:

A developmental defect in which a kidney is located in an abnormal anatomic position.

Comments:

Reference:

HP:0000086

Genes and Diseases:

Child Nodes:

........

Pelvic kidney (HP:0000125)

........

Crossed fused renal ectopia (HP:0004736)

Sister Nodes:

Horseshoe kidney (HP:0000085)

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:0000086	HP:0000086	Ectopic kidney	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0000086	HP:0000086	Ectopic kidney	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0000086	HP:0000086	Ectopic kidney	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000086	HP:0000086	Ectopic kidney	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000086	HP:0000086	Ectopic kidney	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0000086	HP:0000086	Ectopic kidney	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0000086	HP:0000086	Ectopic kidney	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0000086	HP:0000086	Ectopic kidney	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000086	HP:0000086	Ectopic kidney	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000086	HP:0000086	Ectopic kidney	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000086	HP:0000086	Ectopic kidney	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0000086	HP:0000086	Ectopic kidney	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0000086	HP:0000086	Ectopic kidney	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000086	HP:0000086	Ectopic kidney	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0000086	HP:0000086	Ectopic kidney	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation		134
HP:0000086	HP:0000086	Ectopic kidney	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000086	HP:0000086	Ectopic kidney	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000086	HP:0000086	Ectopic kidney	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0000086	HP:0000086	Ectopic kidney	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0000086	HP:0000086	Ectopic kidney	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000086	HP:0000086	Ectopic kidney	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0000086	HP:0000086	Ectopic kidney	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000086	HP:0000086	Ectopic kidney	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0000086	HP:0000086	Ectopic kidney	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0000086	HP:0000086	Ectopic kidney	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0000086	HP:0000086	Ectopic kidney	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000086	HP:0000086	Ectopic kidney	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000086	HP:0000086	Ectopic kidney	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000086	HP:0000086	Ectopic kidney	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000086	HP:0000086	Ectopic kidney	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent	25
HP:0000086	HP:0000086	Ectopic kidney	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	HP:0040283 - Occasional	4
HP:0000086	HP:0000086	Ectopic kidney	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000086	HP:0000086	Ectopic kidney	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000086	HP:0000086	Ectopic kidney	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000086	HP:0000086	Ectopic kidney	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000086	HP:0000086	Ectopic kidney	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000086	HP:0000086	Ectopic kidney	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0000086	HP:0000086	Ectopic kidney	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0000086	HP:0000086	Ectopic kidney	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0000086	HP:0000086	Ectopic kidney	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000086	HP:0000086	Ectopic kidney	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000086	HP:0000086	Ectopic kidney	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000086	HP:0000086	Ectopic kidney	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000086	HP:0000086	Ectopic kidney	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0000086	HP:0000086	Ectopic 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:0000086	HP:0000086	Ectopic kidney	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000086	HP:0000086	Ectopic kidney	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0000086	HP:0000086	Ectopic kidney	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000086	HP:0000086	Ectopic kidney	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	HP:0040283 - Occasional	68
HP:0000086	HP:0000086	Ectopic kidney	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000086	HP:0000086	Ectopic kidney	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000086	HP:0000086	Ectopic kidney	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0000086	HP:0000086	Ectopic kidney	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000086	HP:0000086	Ectopic kidney	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0000086	HP:0000086	Ectopic kidney	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000086	HP:0000086	Ectopic kidney	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000086	HP:0000086	Ectopic kidney	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000086	HP:0000086	Ectopic kidney	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0000086	HP:0000086	Ectopic kidney	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000086	HP:0000086	Ectopic kidney	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000086	HP:0000086	Ectopic kidney	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0000086	HP:0000086	Ectopic kidney	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional	100
HP:0000086	HP:0000086	Ectopic kidney	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0000086	HP:0000086	Ectopic kidney	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic kidney	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0000086	HP:0000086	Ectopic kidney	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	111
HP:0000086	HP:0000086	Ectopic kidney	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000086	HP:0000086	Ectopic 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:0000086	HP:0000086	Ectopic kidney	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040283 - Occasional	4
HP:0000086	HP:0000086	Ectopic kidney	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0000086	HP:0000086	Ectopic kidney	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0000086	HP:0000086	Ectopic kidney	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0000086	HP:0000086	Ectopic kidney	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000086	HP:0000086	Ectopic kidney	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000086	HP:0000086	Ectopic kidney	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0000086	HP:0000125	Pelvic kidney	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000086	HP:0000125	Pelvic kidney	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0000086	HP:0000125	Pelvic kidney	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000086	HP:0000125	Pelvic kidney	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0000086	HP:0000125	Pelvic kidney	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000086	HP:0000125	Pelvic kidney	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000086	HP:0000125	Pelvic kidney	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000086	HP:0000125	Pelvic kidney	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000086	HP:0000125	Pelvic kidney	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000086	HP:0000125	Pelvic kidney	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000086	HP:0000125	Pelvic kidney	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000086	HP:0000125	Pelvic kidney	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000086	HP:0000125	Pelvic kidney	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000086	HP:0000125	Pelvic kidney	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0000086	HP:0000125	Pelvic kidney	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000086	HP:0000125	Pelvic kidney	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000086	HP:0000125	Pelvic kidney	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000086	HP:0000125	Pelvic kidney	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000086	HP:0000125	Pelvic kidney	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000086	HP:0000125	Pelvic 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:0000086	HP:0000125	Pelvic kidney	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0000086	HP:0004736	Crossed fused renal ectopia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000086	HP:0000125	Pelvic kidney	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0000086	HP:0000125	Pelvic kidney	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000086	HP:0000125	Pelvic kidney	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000086	HP:0000125	Pelvic kidney	1	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:0000086	HP:0004736	Crossed fused renal ectopia	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0000086	HP:0000125	Pelvic kidney	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000086	HP:0000125	Pelvic kidney	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000086	HP:0000125	Pelvic kidney	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000086	HP:0034233	Disc kidney	2	CL E G H
HP:0000086	HP:0034232	Unilateral lump kidney	2	CL E G H
HP:0000086	HP:0034231	Sigmoid kidney	2	CL E G H
HP:0000086	HP:0034230	Inferior crossed fused renal ectopia	2	CL E G H
HP:0000086	HP:0034235	Superior crossed-fused renal ectopia	2	CL E G H
HP:0000086	HP:0034234	L-shaped kidney	2	CL E G H

Genes (79) :ADAMTS3 APC ARID1B BAZ1B BCL7B BUD23 CCBE1 CCNQ CDC42BPB CHN1 CLIP2 CTU2 DACT1 DDX59 DDX6 DNA2 DNAJC30 DYRK1A EIF4H ELN FANCA FANCC FANCD2 FANCE FANCF FAT4 FGFR1 FKBP6 FUZ GLI3 GNB2 GTF2I GTF2IRD1 GTF2IRD2 HMGA2 HOXD13 JAM3 KDM6A KMT2D KNSTRN LEMD3 LIMK1 LRP4 MAFB METTL27 MLXIPL NCF1 NIPBL NRIP1 PBX1 PIK3CD PUF60 RBBP8 RFC2 RIPK4 RPS26 RTTN SALL1 SALL4 SF3B2 SLX4 SMS SNRPB SPECC1L SPINK5 STRA6 STX1A TBL2 TMEM270 USP9X VANGL1 VPS37D WAC WNT4 WT1 XRCC2 XRCC4 ZEB2 ZMYM2

Diseases (61) :ORPHA:2136 ORPHA:3258 OMIM:135900 ORPHA:904 OMIM:235510 ORPHA:140952 OMIM:300707 OMIM:619841 ORPHA:233 OMIM:618142 ORPHA:857 OMIM:617466 ORPHA:2919 OMIM:618653 OMIM:615807 ORPHA:464311 OMIM:194050 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:613001 ORPHA:3027 ORPHA:672 OMIM:146510 OMIM:619503 ORPHA:94063 ORPHA:887 OMIM:613730 ORPHA:2322 OMIM:147920 OMIM:613328 OMIM:212780 OMIM:122470 OMIM:618270 OMIM:617641 ORPHA:508488 ORPHA:508498 OMIM:606744 OMIM:263650 OMIM:613309 ORPHA:468631 ORPHA:959 OMIM:607323 OMIM:164210 OMIM:613951 ORPHA:3063 OMIM:117650 ORPHA:1519 ORPHA:634 OMIM:601186 OMIM:300919 ORPHA:466950 ORPHA:3109 ORPHA:3097 OMIM:617247 OMIM:616541 ORPHA:261552 ORPHA:261537 OMIM:619522

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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