Version: 8.0.0
Date: Tue Jan 28 2025
congenital generalized lipodystrophy type 2
DOID:0111136
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital generalized lipodystrophy type 2

Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Synonyms
  • Berardinelli-Seip congenital lipodystrophy type 2
  • Berardinelli-Seip syndrome
Cross References
Parent Terms
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None
Sources of Associations

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