Term Name: nephrotic syndrome type 21
Synonyms: NPHS21
Definition: A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.
Ontology: Human Disease [DOID:0112267]   ( DOID:0112267 )

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