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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
Xrefs

OMIM:615573

Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

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