| Metadata | |
|---|---|
| ID | DOID:0111136 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/11479539 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Berardinelli-Seip congenital lipodystrophy type 2 [EXACT] Berardinelli-Seip syndrome [EXACT] Brunzell syndrome BSCL2-related [EXACT] CGL2 [EXACT] congenital lipoatrophic diabetes [EXACT] total lipodystrophy and acromegaloid gigantism [EXACT] |
| Parent Relationships |