| umls-concept:C0221032 | skos:definition | JABL: The concurrence of generalized loss of body fat, diabetes mellitus, hepatomegaly, acanthosis nigricans, enlarged external genitalia, and increased rate of skeletal growth. This and Kobberling-Dunnigan syndrome share many common characteristics.,MSH: Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.,NCI: A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus. | lld:umls |
