| Metadata | |
|---|---|
| ID | DOID:0070205 |
| Name | familial partial lipodystrophy type 4 |
| Definition | A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/21345103 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial partial lipodystrophy associated with PLIN1 mutations [EXACT] FPLD4 [EXACT] PLIN1-related familial partial lipodystrophy [EXACT] PLIN1-related FPLD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some adipose tissue has material basis in some autosomal dominant inheritance |