FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 31 ID (Ontology) DOID:0060938 (Human Disease)
Definition A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
Also Known As "DYT31" ; "ZECH-BOESCH SYNDROME"
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 Genes
 dystonia 31       6
 for disease ribbon | dystonia 31       6
 model of | dystonia 31       6
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
movement disease                 |
 |__dystonia_____________________|
                                 dystonia 31  6 rec.
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Is a autosomal recessive disease
dystonia
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Synonyms
  • "DYT31" EXACT OMO:0003012
    "ZECH-BOESCH SYNDROME" EXACT
Secondary IDs
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MIM:619565