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Summary Literature (0)
DOID:0111135 - congenital generalized lipodystrophy type 1

Disease Ontology Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

Synonyms: Berardinelli-Seip Congenital Lipodystrophy, Type 1, Brunzell syndrome AGPAT2-related, BSCL1, CGL1

Xenbase Genes : agpat2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012071 - congenital generalized lipodystrophy type 1

MIM:
MIM:608594 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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

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