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| Term | congenital muscular dystrophy due to LMNA mutation | ID (Ontology) | DOID:0110640 (Human Disease) | |||||||||||||||||||||||||||
| Definition | A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. | |||||||||||||||||||||||||||||
| Also Known As | "congenital muscular dystrophy LMNA-related" ; "L-CMD" ; "LMNA-related congenital muscular dystrophy" | |||||||||||||||||||||||||||||
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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_____ physical disorder | |__congenital muscular dystrophy__| muscular dystrophy | |__congenital muscular dystrophy__| congenital muscular dystrophy due to LMNA mutation 24 rec. |
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congenital muscular dystrophy autosomal dominant disease |
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External Crossreferences & Linkouts
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ICD10CM:G71.2 MIM:613205 ORDO:157973 |
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