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 |