Term Name: nephrotic syndrome type 5
Synonyms: nephrotic syndrome type 5, with or without ocular abnormalities
Definition: A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
Ontology: Human Disease [DOID:0080380]   ( DOID:0080380 )

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