FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term myoclonic dystonia 26 ID (Ontology) DOID:0090036 (Human Disease)
Definition A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.
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 myoclonic dystonia 26       1
 for disease ribbon | myoclonic dystonia 26       1
 model of | myoclonic dystonia 26       1
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autosomal genetic disease
 |__autosomal dominant disease__
dystonia                        |
 |__myoclonic dystonia__________|
                                myoclonic dystonia 26  1 rec.
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Is a autosomal dominant disease
myoclonic dystonia
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MIM:616398