Disease association ontology term - MONDO:0008458 - spinocerebellar ataxia type 2

Term summary

ID

MONDO:0008458

Name

spinocerebellar ataxia type 2

Ontology or CV name

Disease association

Definition

A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

Parents

• is_a familial amyotrophic lateral sclerosis
• is_a Huntington disease-like syndrome
• is_a autosomal dominant cerebellar ataxia type I

Annotation