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| Term | nemaline myopathy 6 | ID (Ontology) | DOID:0110935 (Human Disease) |
| Definition | A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. | ||
| Also Known As | "nemaline myopathy 6, autosomal dominant" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ congenital myopathy | |__nemaline myopathy___________| nemaline myopathy 6 |
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| Is a |
autosomal dominant disease nemaline myopathy |
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External Crossreferences & Linkouts
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MESH:C538398 MIM:609273 |
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