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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080391
OMIM:615573
UMLS:C3809965
MONDO:0014257
High level summary of knowledge for a disease, including descriptions and datasource references.