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Disease Ontology Browser
congenital generalized lipodystrophy type 2 (DOID:0111136)
Synonyms: Berardinelli-Seip congenital lipodystrophy type 2; Brunzell syndrome BSCL2-related; CGL2; congenital lipoatrophic diabetes; total lipodystrophy and acromegaloid gigantism
Alt IDs: OMIM:269700, ICD10CM:E88.1
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

Disease References using Mouse Models (9)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory