About   Help   FAQ
Disease Ontology Browser
autosomal recessive limb-girdle muscular dystrophy type 2E (DOID:0110279)
Alliance: disease page
Synonyms: Beta-sarcoglycanopathy; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E
Alt IDs: OMIM:604286, ICD10CM:G71.0, ORDO:119
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

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
11/05/2024
MGI 6.24
The Jackson Laboratory