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Disease Ontology Browser
Bethlem myopathy (DOID:0050663)
Alliance: disease page
Synonyms: benign congenital muscular dystrophy
Alt IDs: MESH:C535436, OMIM:158810
Definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.

Disease References using Mouse Models (4)

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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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory