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familial partial lipodystrophy

Disease Summary
Associated Targets (10)
Tbio

6

Tclin

2

Tchem

2


GARD Rare
Mondo Description Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
Disease Ontology Description A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Mondo Term and Equivalent IDs
MONDO:0020088:  familial partial lipodystrophy
GARD:0011962: 
MESH:D052496: 
NCIT:C84708: 
OMIMPS:151660: 
Orphanet:98306: 
SCTID:49292002: 
UMLS:C0271694: