FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term myoclonic dystonia 11 ID (Ontology) DOID:0090034 (Human Disease)
Definition A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
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 myoclonic dystonia 11       1
 for disease ribbon | myoclonic dystonia 11       1
 model of | myoclonic dystonia 11       1
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autosomal genetic disease
 |__autosomal dominant disease__
dystonia                        |
 |__myoclonic dystonia__________|
                                myoclonic dystonia 11  1 rec.
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Is a autosomal dominant disease
myoclonic dystonia
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ICD10CM:G24.1
MIM:159900
ORDO:36899