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:
Renal duplication (HP:0000075)

..Starting node
..Partially duplicated kidney (HP:0008738)

Term ID:

8738

Name:

Partially duplicated kidney

Synonym:

Partially duplicated kidney

Definition:

The presence of a partially duplicated kidney.

Comments:

Reference:

HP:0008738

Genes and Diseases:

Child Nodes:

Sister Nodes:

Duplication of renal pelvis (HP:0005580)

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:0008738	HP:0008738	Partially duplicated kidney	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	23
HP:0008738	HP:0008738	Partially duplicated kidney	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	8
HP:0008738	HP:0008738	Partially duplicated kidney	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	21

Genes (3) :GP1BA GP1BB GP9

Diseases (1) :ORPHA:274

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