FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 12 ID (Ontology) DOID:0090056 (Human Disease)
Definition A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
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 Genes
 dystonia 12       2
 for disease ribbon | dystonia 12       2
 model of | dystonia 12       2
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autosomal genetic disease
 |__autosomal dominant disease__
movement disease                |
 |__dystonia____________________|
                                dystonia 12  2 rec.
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Is a autosomal dominant disease
dystonia
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ICD10CM:G24.1
MESH:C538001
MIM:128235
ORDO:71517