Human Phenotype Ontology

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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 localization of kidney (HP:0100542)

Parent Node:
Ectopic kidney (HP:0000086)

..Starting node
..Crossed fused renal ectopia (HP:0004736)

Term ID:

4736

Name:

Crossed fused renal ectopia

Synonym:

Crossed-fused renal ectopia; Ectopic kidney with fusion

Definition:

A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.

Comments:

Reference:

HP:0004736

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pelvic kidney (HP:0000125)

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:0004736	HP:0004736	Crossed fused renal ectopia	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0004736	HP:0004736	Crossed fused renal ectopia	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0004736	HP:0034232	Unilateral lump kidney	1	CL E G H
HP:0004736	HP:0034231	Sigmoid kidney	1	CL E G H
HP:0004736	HP:0034230	Inferior crossed fused renal ectopia	1	CL E G H
HP:0004736	HP:0034235	Superior crossed-fused renal ectopia	1	CL E G H
HP:0004736	HP:0034234	L-shaped kidney	1	CL E G H
HP:0004736	HP:0034233	Disc kidney	1	CL E G H

Genes (10) :APC CDC42BPB CTU2 DACT1 DDX59 KDM6A KMT2D LRP4 SALL4 WT1

Diseases (10) :ORPHA:3258 OMIM:619841 OMIM:618142 OMIM:617466 ORPHA:2919 ORPHA:2322 OMIM:147920 ORPHA:959 OMIM:607323 ORPHA:3097

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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