episodic ataxia type 6

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Summary

Literature (1)

DOID:0050994 - episodic ataxia type 6

Disease Ontology Definition:An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc1a3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012982 - episodic ataxia type 6

MONDO:0012982 - episodic ataxia type 6

MIM:

MIM:612656 - EPISODIC ATAXIA, TYPE 6; EA6

MIM:612656 - EPISODIC ATAXIA, TYPE 6; EA6

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)