nephrotic syndrome type 2 (DOID:0080379)
Alliance: disease page
Synonyms: steroid-resistant autosomal recessive nephrotic syndrome
Alt IDs: OMIM:600995
Definition: A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31.