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skos:definition |
MSH: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.,NCI: An autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck.
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