congenital generalized lipodystrophy type 3
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
MONDO:0006536
congenital generalized lipodystrophy
is_a
MONDO:0018883
Berardinelli-Seip congenital lipodystrophy
is_a
BSCL3
exact
CAV1 congenital generalised lipodystrophy (disease)
exact
CAV1 congenital generalized lipodystrophy (disease)
exact
CGL3
exact
congenital generalised lipodystrophy (disease) caused by mutation in CAV1
exact
congenital generalized lipodystrophy (disease) caused by mutation in CAV1
exact
lipodystrophy, congenital generalized, type 3
related
type 3 Berardinelli-Seip congenital lipodystrophy
related