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 distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)
ClinVar Annotator: match by term: Miyoshi myopathy ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive ClinVar Annotator: match by term: Miyoshi muscular dystrophy CTD Direct Evidence: marker/mechanism