|OBO ID: DOID:0050663|
|Term Name:||Bethlem myopathy||Search Ontology:|
|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. https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy|
|Ontology:||Human Disease (DOID:0050663)|
|is a type of:||
OTHER Bethlem myopathy PAGES
PHENOTYPE No data available
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