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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0006536 - congenital generalized lipodystrophy


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), lipodystrophy (is_a), physical disorder (is_a)