Term Name: nephrotic syndrome type 3
Synonyms: early onset nephrotic syndrome type 3
Definition: A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.
Ontology: Human Disease [DOID:0080382]   ( DOID:0080382 )

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