Term Name: nephrotic syndrome type 12
Synonyms:
Definition: A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.
Ontology: Human Disease [DOID:0080387]   ( DOID:0080387 )

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