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 congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)
Synonyms:
exact_synonym:
CMYO6; CMYP6; IBM3; MYPOP; congenital myopathy 6 with ophthalmoplegia; hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome; inclusion body myopathy 3; inclusion body myopathy 3, autosomal dominant; inclusion body myopathy, autosomal dominant; inclusion body myopathy, dominant; myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; proximal myopathy and ophthalmoplegia
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Inclusion body myopathy autosomal dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia