congenital generalized lipodystrophy type 2

Term ID

DOID:0111136

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. https://www.ncbi.nlm.nih.gov/pubmed/11479539

References

• GARD:10212
• ICD10CM:E88.1
• OMIM:269700

Ontology

Human Disease   ( DOID:0111136 )