| Metadata | |
|---|---|
| ID | DOID:0070204 |
| Name | familial partial lipodystrophy type 3 |
| Definition | A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/10622252 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1197745002 |
| Subsets |
DO_rare_slim |
| Synonyms |
familial partial lipodystrophy associated with PPARG mutations [EXACT] FPLD3 [EXACT] PPARG-related familial partial lipodystrophy [EXACT] PPARG-related FPLD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |