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DOID:0111138 - congenital generalized lipodystrophy type 4
Disease Ontology Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
Synonyms: BSCL4, Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, Brunzell syndrome AGPAT2-related, CGL4, GCL4, congenital generalised lipodystrophy type 4, generalised congenital lipodystrophy type 4, generalised congenital lipodystrophy with myopathy, generalized congenital lipodystrophy type 4, generalized congenital lipodystrophy with myopathy,
Xenbase Genes
:
cavin1
| MONDO:0013225 - congenital generalized lipodystrophy type 4 |
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)