Term Name: nephrotic syndrome type 9
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 )

Relationships
is a type of: autosomal recessive disease familial nephrotic syndrome