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| Term | Bethlem myopathy | ID (Ontology) | DOID:0050663 (Human Disease) |
| 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. | ||
| Also Known As | "benign congenital muscular dystrophy" | ||
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physical disorder___ muscular dystrophy__| congenital muscular dystrophy |__Bethlem myopathy |
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| Is a | congenital muscular dystrophy | ||
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GARD:873 MESH:C535436 MIM:158810 |
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