Search Ontology:
Human Disease

spinocerebellar ataxia 46

Term ID
DOID:0080288
Synonyms
Definition
An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/29053796/
References
Ontology
Human Disease   ( DOID:0080288 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models