Term Name: nephrotic syndrome type 2
Synonyms: steroid-resistant autosomal recessive nephrotic syndrome
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.
Ontology: Human Disease [DOID:0080379]   ( DOID:0080379 )

Relationships
is a type of: autosomal recessive disease familial nephrotic syndrome