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Standards Ontologies Notations
familial juvenile hyperuricemic nephropathy

Summary
Definition
A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
Super Class
kidney disease
Disease Ontology
DOID:0060062
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4582 MUC1 mucin 1, cell surface associated
5972 REN renin
7369 UMOD uromodulin
Displaying all 3 entries
Gene ID Gene Symbol Description Source
17829 Muc1 mucin 1, transmembrane
19701 Ren1 renin 1 structural
22242 Umod uromodulin
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24715 Ren renin
25128 Umod uromodulin
Displaying 1 entry
Gene ID Gene Symbol Description Source
180251 asp-1 Aspartic protease 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855949 PEP4 proteinase A
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000112 Nephropathy
HP:0003621 Juvenile onset
HP:0000083 Renal insufficiency
HP:0012213 Decreased glomerular filtration rate
HP:0001997 Gout
HP:0000006 Autosomal dominant inheritance
HP:0002149 Hyperuricemia
HP:0000092 Renal tubular atrophy
HP:0003676 Progressive
HP:0000123 Nephritis
Displaying 1 entry
Gene ID Gene Symbol Description
7369 UMOD uromodulin
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024