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DOID:0050585 - congenital generalized lipodystrophy
Disease Ontology Definition:A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
Synonyms: Beradinelli-Seip syndrome,
Xenbase Genes : cav1, agpat2, bscl2, cavin1
MONDO:0006536 - congenital generalized lipodystrophy |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee