Human Phenotype Ontology

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 renal pelvis morphology (HP:0010944)

Parent Node:
Renal duplication (HP:0000075)

..Starting node
..Duplication of renal pelvis (HP:0005580)

Term ID:

5580

Name:

Duplication of renal pelvis

Synonym:

Definition:

A duplication of the renal pelvis.

Comments:

Reference:

HP:0005580

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partially duplicated kidney (HP:0008738)

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:0005580	HP:0005580	Duplication of renal pelvis	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005580	HP:0005580	Duplication of renal pelvis	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005580	HP:0005580	Duplication of renal pelvis	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0005580	HP:0005580	Duplication of renal pelvis	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional	12
HP:0005580	HP:0005580	Duplication of renal pelvis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362

Genes (5) :GPC3 GPC4 KCTD1 SLC6A17 ZEB2

Diseases (4) :OMIM:312870 ORPHA:2036 ORPHA:457212 ORPHA:261552

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