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| Term | myofibrillar myopathy 1 | ID (Ontology) | DOID:0080092 (Human Disease) |
| Definition | A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. | ||
| Also Known As | "autosomal recessive limb-girdle muscular dystrophy type 2R" ; "desminopathy" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease___ |__autosomal recessive disease__| myopathy | |__myofibrillar myopathy________| myofibrillar myopathy 1 |
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| Is a |
autosomal dominant disease autosomal recessive disease myofibrillar myopathy |
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External Crossreferences & Linkouts
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ICD10CM:G71.0 MIM:601419 ORDO:363543 |
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