Disease association ontology term - MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

Term summary

ID

MONDO:0014601

Name

autosomal recessive spinocerebellar ataxia 20

Ontology or CV name

Disease association

Definition

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a autosomal recessive cerebellar ataxia
• is_a central nervous system malformation

Annotation