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Disease Ontology Browser
congenital generalized lipodystrophy type 2 (DOID:0111136)
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Synonyms: Berardinelli-Seip congenital lipodystrophy type 2; Berardinelli-Seip syndrome; 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 (10)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
The Jackson Laboratory