Focal segmental glomerulosclerosis 1

Definition

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.

Also known as ACTN4 focal segmental glomerulosclerosis, familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis, focal segmental glomerulosclerosis 1, focal segmental glomerulosclerosis caused by mutation in ACTN4, focal segmental glomerulosclerosis type 1, FSGS1 — per MONDO

Also identified as

• DOID 0111128 per MONDO
• MESH C538457 per MONDO
• OMIM 603278 per MONDO
• Orphanet 93213 per MONDO
• UMLS C4551527 per MONDO