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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)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory