nephrotic syndrome type 1 (DOID:0080390)
Alliance: disease page
Synonyms: Finnish congenital nephrosis
Alt IDs: OMIM:256300, NCI:C122795, ORDO:839, UMLS_CUI:C0403399
Definition: A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.