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Berardinelli-Seip congenital lipodystrophy

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
Mondo Term and Equivalent IDs
MONDO:0018883:  Berardinelli-Seip congenital lipodystrophy
NCIT:C84594: 
Orphanet:528: 
SCTID:127012008: