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 ...