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:
Abnormality of the kidney (HP:0000077)

Parent Node:
Abnormal renal morphology (HP:0012210)

..Starting node
..Renal malrotation (HP:0004712)

Term ID:

4712

Name:

Renal malrotation

Synonym:

Abnormal rotation of the kidneys; Malrotation of the kidney

Definition:

An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.

Comments:

Reference:

HP:0004712

Genes and Diseases:

Child Nodes:

........

Axial malrotation of the kidney (HP:0004717)

Sister Nodes:

Abnormal localization of kidney (HP:0100542)

Abnormal nephron morphology (HP:0012575)

Abnormal renal artery morphology (HP:0008776)

Abnormal renal calyx morphology (HP:0011130)

Abnormal renal collecting system morphology (HP:0004742)

Abnormal renal cortex morphology (HP:0011035)

Abnormal renal medulla morphology (HP:0100957)

Abnormal renal pelvis morphology (HP:0010944)

Decreased renal parenchymal thickness (HP:0025327)

Enlarged kidney (HP:0000105)

Hyperechogenic kidneys (HP:0004719)

Nephrocalcinosis (HP:0000121)

Nephrogenic rest (HP:0100880)

Nephrolithiasis (HP:0000787)

Nephrosclerosis (HP:0009741)

Perinephric fluid collection (HP:0031226)

Perirenal hematoma (HP:0030171)

Renal amyloidosis (HP:0001917)

Renal atrophy (HP:0012585)

Renal cyst (HP:0000107)

Renal duplication (HP:0000075)

Renal dysplasia (HP:0000110)

Renal fibrosis (HP:0030760)

Renal hypoplasia/aplasia (HP:0008678)

Renal steatosis (HP:0000799)

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:0004712	HP:0004712	Renal malrotation	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0004712	HP:0004712	Renal malrotation	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0004712	HP:0004712	Renal malrotation	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0004712	HP:0004712	Renal malrotation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39
HP:0004712	HP:0004712	Renal malrotation	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0004712	HP:0004712	Renal malrotation	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0004712	HP:0004712	Renal malrotation	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040281 - Very frequent	86
HP:0004712	HP:0004712	Renal malrotation	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0004712	HP:0004712	Renal malrotation	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0004712	HP:0004712	Renal malrotation	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0004712	HP:0004712	Renal malrotation	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0004712	HP:0004717	Axial malrotation of the kidney	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0004712	HP:0004717	Axial malrotation of the kidney	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10

Genes (8) :EYA1 FIBP PAX2 RBM8A SALL4 SIX1 SOX11 STRA6

Diseases (10) :OMIM:113650 ORPHA:500095 OMIM:617107 OMIM:120330 OMIM:274000 ORPHA:3320 ORPHA:959 OMIM:607323 OMIM:615866 OMIM:601186

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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