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Standards Ontologies Notations
dystonia 21

Summary
Definition
A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.
Super Class
autosomal dominant disease dystonia
External Links
Disease Ontology
DOID:0090046
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51649 Succinate-semialdehyde dehydrogenase, mitochondrial
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024