Visualize Submit Comment
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.


Parent Relationships

is_a familial nephrotic syndrome

is_a autosomal recessive disease

Add an item to the term tracker