About   Help   FAQ
Disease Ontology Browser
congenital generalized lipodystrophy type 4 (DOID:0111138)
Alliance: disease page
Synonyms: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; congenital generalised lipodystrophy type 4; generalised congenital lipodystrophy type 4; generalised congenital lipodystrophy with myopathy; generalized congenital lipodystrophy type 4; generalized congenital lipodystrophy with myopathy
Alt IDs: OMIM:613327, ICD10CM:E88.1, ORDO:228429
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.

Disease References using Mouse Models (1)
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