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.
This disease is a progressive neurologic disorder characterized by motor dysfunction, speech impairment, and impaired cognition. It is caused by homozygous or compound heterozygous mutation in the mitochondrial cytidine monophosphate (UMP-CMP) kinase-2 gene (CMPK2) on chromosome 2p25.