Term Name: congenital generalized lipodystrophy type 1
Synonyms: Berardinelli-Seip Congenital Lipodystrophy, Type 1, Brunzell syndrome AGPAT2-related
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
Ontology: Human Disease [DOID:0111135]   ( DOID:0111135 )

Relationships
is a type of: congenital generalized lipodystrophy
disjoint_from: congenital generalized lipodystrophy type 2