| Metadata | |
|---|---|
| ID | DOID:0111138 |
| Name | congenital generalized lipodystrophy type 4 |
| Definition | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. https://www.ncbi.nlm.nih.gov/pubmed/19726876 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy [EXACT] congenital generalised lipodystrophy type 4 [EXACT] generalised congenital lipodystrophy type 4 [EXACT] generalised congenital lipodystrophy with myopathy [EXACT] generalized congenital lipodystrophy type 4 [EXACT] generalized congenital lipodystrophy with myopathy [EXACT] |
| Parent Relationships |