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nephrotic syndrome, type 9
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.
Uniprot Description A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.
Disease Ontology Description A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.