X-linked dystonia-parkinsonism English (Q3042159)

A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1. English
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    314250
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    DOID:0090057
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    53351
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    C564048
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    MONDO:0010747
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    ICD-10-CM English
    G24.1
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    DOID:0090057
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    10533
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    UMLS CUI English
    C1839130
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