congenital generalized lipodystrophy type 2
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
MONDO:0006536
congenital generalized lipodystrophy
is_a
MONDO:0018883
Berardinelli-Seip congenital lipodystrophy
is_a
BSCL2 congenital generalised lipodystrophy (disease)
exact
BSCL2 congenital generalized lipodystrophy (disease)
exact
BSCL2-related Brunzell syndrome
related
Berardinelli Seip congenital lipodystrophy type 2
related
CGL2
exact
congenital generalised lipodystrophy (disease) caused by mutation in BSCL2
exact
congenital generalized lipodystrophy (disease) caused by mutation in BSCL2
exact
lipodystrophy, congenital generalized, type 2
related
SPAC3A11.04