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 hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. (DO)
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations