Congenital generalized lipodystrophy type 3

Definition

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.

Also known as BSCL3, CAV1 congenital generalised lipodystrophy (disease), CAV1 congenital generalized lipodystrophy (disease), CGL3, congenital generalised lipodystrophy (disease) caused by mutation in CAV1, congenital generalized lipodystrophy (disease) caused by mutation in CAV1 — per MONDO

Also identified as

• DOID 0111137 per MONDO
• MESH C567282 per MONDO
• OMIM 612526 per MONDO
• Orphanet 696206 per MONDO
• UMLS C2675861 per MONDO