Term Name: | congenital generalized lipodystrophy type 2 |
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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 ) |