"A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in AVIL on chromosome 12q14.1."^^ . _:vb50946404 . _:vb50946404 . "disease_ontology"^^ . . _:vb50946404 . . . "OMIM:618594"^^ . _:vb50946404 . "nephrotic syndrome type 21"^^ . "NPHS21"^^ . . "DOID:0112267"^^ . _:vb50946404 .