| Metadata | |
|---|---|
| ID | DOID:0111135 |
| Name | congenital generalized lipodystrophy type 1 |
| Definition | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/11967537 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Berardinelli-Seip Congenital Lipodystrophy, Type 1 [EXACT] Brunzell syndrome AGPAT2-related [EXACT] |
| Parent Relationships |