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Summary Literature (0)
DOID:0111136 - congenital generalized lipodystrophy type 2

Disease Ontology Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

Synonyms: Berardinelli-Seip congenital lipodystrophy type 2, Berardinelli-Seip syndrome, Brunzell syndrome BSCL2-related, CGL2, congenital lipoatrophic diabetes, total lipodystrophy and acromegaloid gigantism,

Xenbase Genes : bscl2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010020 - congenital generalized lipodystrophy type 2


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital generalized lipodystrophy (is_a)