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.
A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33. (DO)
ClinVar Annotator: match by OMIM:605280 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT ClinVar Annotator: match by term: Hereditary spastic paraplegia 13