Term Name: | familial partial lipodystrophy type 2 |
---|---|
Synonyms: | familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy Dunnigan type, FPLD2, reverse partial lipodystrophy |
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. |
Ontology: | Human Disease [DOID:0070202] ( DOID:0070202 ) |