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 |