Term Name: congenital generalized lipodystrophy type 2
Synonyms: Berardinelli-Seip congenital lipodystrophy type 2, Berardinelli-Seip syndrome, Brunzell syndrome BSCL2-related, CGL2, congenital lipoatrophic diabetes, total lipodystrophy and acromegaloid gigantism
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Ontology: Human Disease [DOID:0111136]   ( DOID:0111136 )

Relationships
is a type of: congenital generalized lipodystrophy
inverse disjoint_from: congenital generalized lipodystrophy type 1