Metadata | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/26878725 |
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