Metadata | |
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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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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |