Term Name: | nephrotic syndrome type 12 |
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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 ) |