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 multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)
Synonyms:
exact_synonym:
EDM3; multiple epiphyseal dysplasia 3 with or without myopathy
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy