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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
External Links
- Disease Ontology
- DOID:0060062
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07911 | Uromodulin |
- The Human Phenotype Ontology
| 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 |
