RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)
Synonyms:
exact_synonym:
CPD III; CPD3; Cerebellar Hypoplasia, Nonprogressive Norman Type; Cerebelloparenchymal Disorder III; SCAR2; congenital cerebellar granular cell hypoplasia and mental retardation
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 ClinVar Annotator: match by term: CPD III CTD Direct Evidence: marker/mechanism