About   Help   FAQ
Disease Ontology Browser
congenital generalized lipodystrophy type 1 (DOID:0111135)
Alliance: disease page
Synonyms: Berardinelli-Seip Congenital Lipodystrophy, Type 1; Brunzell syndrome AGPAT2-related
Alt IDs: OMIM:608594, ICD10CM:E88.1
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

Disease References using Mouse Models (2)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory