Disease-gene associations mined from literature

Human genes for nephrotic syndrome type 2

Nephrotic syndrome type 2 [DOID:0080379]

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.

Synonyms:  nephrotic syndrome type 2,  DOID:0080379,  steroid-resistant autosomal recessive nephrotic syndrome,  steroidresistant autosomal recessive nephrotic syndrome,  steroid-resistant autosomal recessive nephrotic disease ...