Metadata | |
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ID | DOID:0080393 |
Name | nephrotic syndrome type 18 |
Definition | A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/30179222 |
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