Term Name: | nephrotic syndrome type 9 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080391] ( DOID:0080391 ) |