FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked dystonia-parkinsonism ID (Ontology) DOID:0090057 (Human Disease)
Definition A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.
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 X-linked dystonia-parkinsonism       1
 for disease ribbon | X-linked dystonia-parkinsonism       1
 model of | X-linked dystonia-parkinsonism       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
dystonia                        |
 |__focal dystonia______________|
                                X-linked dystonia-parkinsonism  1 rec.
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Is a focal dystonia
X-linked recessive disease
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GARD:10533
ICD10CM:G24.1
MIM:314250
ORDO:53351