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Summary Literature (0)
DOID:0111137 - congenital generalized lipodystrophy type 3


Disease Ontology Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

Synonyms: BSCL3, Berardinelli-Seip congenital lipodystrophy type 3, CGL3

Xenbase Genes : cav1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012923 - congenital generalized lipodystrophy type 3

OMIM:
OMIM:612526 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

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)