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.
Term:
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Caused by heterozygous mutation in the AARS1 gene on chromosome 16q22.
Synonyms:
exact_synonym:
HDLS2; hereditary diffuse leukoencephalopathy with spheroids, Swedish type