FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term dystonia 16 ID (Ontology) DOID:0090048 (Human Disease)
Definition A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
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 Genes
 dystonia 16       2
 for disease ribbon | dystonia 16       2
 model of | dystonia 16       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
dystonia                         |
 |__multifocal dystonia__________|
                                 dystonia 16  2 rec.
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Is a autosomal recessive disease
multifocal dystonia
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GARD:10539
ICD10CM:G24.1
MESH:C567430
MIM:612067
ORDO:210571