Search Ontology:
Human Disease
episodic ataxia type 2
- Term ID
- DOID:0050990
- Synonyms
-
- 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
- References
- Ontology
- Human Disease ( DOID:0050990 )
- is a type of
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Genes Involved
Zebrafish Models