| Metadata | |
|---|---|
| ID | DOID:0080391 |
| Name | nephrotic syndrome type 9 |
| Definition | A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/24270420 |
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