X-linked dystonia-parkinsonism
(Q3042159)
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
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
Language:
Current Data About
X-linked dystonia-parkinsonism
(P18) |
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(P31) |
(Q929833)
(Q112193867) |
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(P279) |
(Q906492)
(Q1428695)
(Q1531991) (Q55787958)
(Q55787260)
(Q55010090)
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(P1748) |
C126330
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(P1995) |
(Q83042)
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(P2293) |
(Q18031819)
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(P2888) |
http://purl.obolibrary.org/obo/DOID_0090057
http://identifiers.org/doid/DOID:0090057
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(P5008) |
(Q4099686)
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other details
aliases |
Lubag syndrome X-linked dystonia parkinsonism Torsion Dystonia-Parkinsonism, Filipino Type Lubag DYT3 DYT-TAF1 Dystonia-Parkinsonism, X-Linked DYSTONIA 3, TORSION, X-LINKED; DYT3 XDP DYSTONIA 3, TORSION, X-LINKED |
description | 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 |
External Links
(P486) |
C564048
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(P492) |
314250
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(P699) |
DOID:0090057
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(P1550) |
53351
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(P2892) |
C1839130
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(P4229) |
G24.1
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(P4317) |
10533
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(P5270) |
MONDO_0010747
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(P11143) |
X-linked dystonia parkinsonism
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(P11430) |
DI-00414
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