Term Name: congenital generalized lipodystrophy type 3
Synonyms: Berardinelli-Seip congenital lipodystrophy type 3
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Ontology: Human Disease [DOID:0111137]   ( DOID:0111137 )

Relationships
is a type of: congenital generalized lipodystrophy