Summary Literature (0)

DOID:0111138 - congenital generalized lipodystrophy type 4

Disease Ontology Definition:A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2.

Synonyms: BSCL4, Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, Brunzell syndrome AGPAT2-related, CGL4, GCL4, generalized congenital lipodystrophy type 4, generalized congenital lipodystrophy with myopathy,

Echinobase Genes :


OMIM:

MIM:613327 - lipodystrophy, congenital generalized, type 4; cgl4

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee