nephrotic syndrome type 9

Term ID

DOID:0080391

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. https://www.ncbi.nlm.nih.gov/pubmed/24270420

References

• OMIM:615573

Ontology

Human Disease   ( DOID:0080391 )