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 bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. (DO)
Synonyms:
exact_synonym:
Recklinghausen Disease of Bone; Recklinghausen Disease, Bone; Recklinghausen's disease of bone; Recklinghausens Disease, Bone; hyperparathyroid bone disease; osteitis fibrosa cystica; osteitis fibrosa cystica generalisata; von Recklinghausen's bone disease