FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 33 ID (Ontology) DOID:0060940 (Human Disease)
Definition A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22.
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 Genes
 dystonia 33       1
 for disease ribbon | dystonia 33       1
 model of | dystonia 33       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
movement disease                 |
 |__dystonia_____________________|
                                 dystonia 33  1 rec.
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Is a autosomal dominant disease
autosomal recessive disease
dystonia
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MIM:619687