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:
Abnormal renal physiology (HP:0012211)

Parent Node:
Abnormality of renal excretion (HP:0011036)

..Starting node
..Impaired renal uric acid clearance (HP:0004732)

Term ID:

4732

Name:

Impaired renal uric acid clearance

Synonym:

Definition:

A reduction in the ability of the kidneys to remove uric acid from the serum.

Comments:

Reference:

HP:0004732

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urine output (HP:0012590)

Decreased renal tubular phosphate excretion (HP:0005572)

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:0004732	HP:0004732	Impaired renal uric acid clearance	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1

Genes (1) :MUC1

Diseases (1) :OMIM:174000

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