OBO ID: DOID:0050990
Term Name: episodic ataxia type 2 Search Ontology:
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 )
Relationships
is a type of:
OTHER episodic ataxia type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1A Episodic ataxia, type 2 108500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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