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nephrotic syndrome, type 10
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.
Uniprot Description A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease.
Disease Ontology Description A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13.
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:0080386
OMIM:615861
UMLS:C4014507
MONDO:0014373
High level summary of knowledge for a disease, including descriptions and datasource references.