Term Name: | familial partial lipodystrophy type 4 |
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Synonyms: | familial partial lipodystrophy associated with PLIN1 mutations, FPLD4, PLIN1-related familial partial lipodystrophy, PLIN1-related FPLD |
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. |
Ontology: | Human Disease [DOID:0070205] ( DOID:0070205 ) |