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ID DOID:0080387
Name nephrotic syndrome type 12
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.


Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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