Congenital generalized lipodystrophy type 2

Definition

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.

Also known as BSCL2 congenital generalised lipodystrophy (disease), BSCL2 congenital generalized lipodystrophy (disease), CGL2, congenital generalised lipodystrophy (disease) caused by mutation in BSCL2, congenital generalized lipodystrophy (disease) caused by mutation in BSCL2 — per MONDO

Also identified as

• DOID 0111136 per MONDO
• OMIM 269700 per MONDO
• Orphanet 696289 per MONDO
• UMLS C1720863 per MONDO