| Metadata | |
|---|---|
| ID | DOID:0070202 |
| Name | familial partial lipodystrophy type 2 |
| Definition | A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/10587585, https://www.ncbi.nlm.nih.gov/pubmed/170190 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715439000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial lipodystrophy of limbs and lower trunk [EXACT] familial partial lipodystrophy Dunnigan type [EXACT] FPLD2 [EXACT] reverse partial lipodystrophy [EXACT] |
| Parent Relationships |