FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 37, early-onset with striatal lesions ID (Ontology) DOID:0060956 (Human Disease)
Definition A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.
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 dystonia 37, early-onset with striatal lesions       1
 for disease ribbon | dystonia 37, early-onset with striatal lesions       1
 model of | dystonia 37, early-onset with striatal lesions       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
movement disease                 |
 |__dystonia_____________________|
                                 dystonia 37, early-onset with striatal lesions  1 rec.
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Is a autosomal recessive disease
dystonia
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MIM:620427