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Metadata
ID DOID:0050990
Name episodic ataxia type 2
Definition An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
https://www.omim.org/entry/108500
Xrefs

MESH:C535506

OMIM:108500

Parent Relationships

is_a episodic ataxia

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