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 hypoplasia (HP:0000089)

..Starting node
..Bilateral renal hypoplasia (HP:0012584)

Term ID:

12584

Name:

Bilateral renal hypoplasia

Synonym:

Definition:

Two sided hypoplasia of the kidney.

Comments:

Reference:

HP:0012584

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral renal hypoplasia (HP:0012583)

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:0012584	HP:0012584	Bilateral renal hypoplasia	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0012584	HP:0012584	Bilateral renal hypoplasia	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0012584	HP:0012584	Bilateral renal hypoplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0012584	HP:0012584	Bilateral renal hypoplasia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (4) :CENPF NSD2 PUF60 ZNF699

Diseases (4) :OMIM:243605 OMIM:619695 ORPHA:508488 OMIM:619488

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