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Metadata
ID	DOID:0050663
Name	Bethlem myopathy
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
Xrefs	GARD:873 MESH:C535436 MIM:158810
Subsets	DO_rare_slim
Synonyms	benign congenital muscular dystrophy [EXACT]
Parent Relationships	is_a congenital muscular dystrophy