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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:0012923 - congenital generalized lipodystrophy type 3 |
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)