About   Help   FAQ
Disease Ontology Browser
muscular dystrophy-dystroglycanopathy type B1 (DOID:0050588)
Alliance: disease page
Synonyms: CMD due to dystroglycanopathy; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Alt IDs: OMIM:613155
Definition: A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.

Disease References using Mouse Models (8)
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
03/25/2025
MGI 6.24 		The Jackson Laboratory