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:
Renal hypoplasia/aplasia (HP:0008678)

Parent Node:
Renal hypoplasia (HP:0000089)

..Starting node
..Unilateral renal hypoplasia (HP:0012583)

Term ID:

12583

Name:

Unilateral renal hypoplasia

Synonym:

Small kidney on one side; Underdeveloped kidney on one side

Definition:

One sided hypoplasia of the kidney.

Comments:

Reference:

HP:0012583

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral renal hypoplasia (HP:0012584)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012583	HP:0012583	Unilateral renal hypoplasia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012583	HP:0012583	Unilateral renal hypoplasia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica	113
HP:0012583	HP:0012583	Unilateral renal hypoplasia	0	PLXNA1 CL E G H	5361	9099	OMIM:619955

Genes (3) :H4C5 HRAS PLXNA1

Diseases (3) :OMIM:619950 ORPHA:2874 OMIM:619955

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