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:
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
This disease is characterized by macrocephaly, cranial hyperostosis, anvertebral endplate sclerosis, and hip dysplasia. Bone biopsy of patients shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae.