nephrotic syndrome type 12

Term ID

DOID:0080387

Synonyms

Definition

A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/26878725

References

• MIM:616892

Ontology

Human Disease   ( DOID:0080387 )