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:
Renal hypoplasia/aplasia (HP:0008678)

Parent Node:
Renal agenesis (HP:0000104)

..Starting node
..Bilateral renal agenesis (HP:0010958)

Term ID:

10958

Name:

Bilateral renal agenesis

Synonym:

Definition:

A bilateral form of agenesis of the kidney.

Comments:

Reference:

HP:0010958

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral renal agenesis (HP:0000122)

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:0010958	HP:0010958	Bilateral renal agenesis	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0010958	HP:0010958	Bilateral renal agenesis	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0010958	HP:0010958	Bilateral renal agenesis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0010958	HP:0010958	Bilateral renal agenesis	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0010958	HP:0010958	Bilateral renal agenesis	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3

Genes (5) :GFRA1 GLI3 HS2ST1 ITGA8 NADSYN1

Diseases (5) :OMIM:619887 ORPHA:672 OMIM:619194 OMIM:191830 OMIM:618845

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