Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91X17 | 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 |
