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 hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)
Synonyms:
exact_synonym:
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; Worth disease; Worth's syndrome; autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; autosomal dominant osteosclerosis, Worth type; autosomal dominant osteosclerosis, Worth type with torus palatinus; benign form of Worth hyperostosis corticalis generalisata with torus platinus; benign hyperostosis corticalis generalisata; endosteal hyperostosis, Worth type; hyperostosis corticalis generalisata congenita; osteosclerosis of the skull and enlarged mandible
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease