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Summary Literature (0)
DOID:0050990 - episodic ataxia type 2

Disease Ontology 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.

Synonyms:

Xenbase Genes : cacna1a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007163 - episodic ataxia type 2

MIM:
MIM:108500 - EPISODIC ATAXIA, TYPE 2; EA2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): episodic ataxia (is_a)