FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dystonia 30 ID (Ontology) DOID:0060937 (Human Disease)
Definition A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13.
Also Known As "DYT30"
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 Genes
 dystonia 30       1
 for disease ribbon | dystonia 30       1
 model of | dystonia 30       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
movement disease                |
 |__dystonia____________________|
                                dystonia 30  1 rec.
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Is a autosomal dominant disease
dystonia
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Synonyms
  • "DYT30" EXACT OMO:0003012
Secondary IDs
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MIM:619291