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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)
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10/29/2024
MGI 6.24 		The Jackson Laboratory